JP5680407B2 - 新規x連鎖性筋疾患に関連するfhl1変異 - Google Patents

新規x連鎖性筋疾患に関連するfhl1変異 Download PDF

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JP5680407B2
JP5680407B2 JP2010510620A JP2010510620A JP5680407B2 JP 5680407 B2 JP5680407 B2 JP 5680407B2 JP 2010510620 A JP2010510620 A JP 2010510620A JP 2010510620 A JP2010510620 A JP 2010510620A JP 5680407 B2 JP5680407 B2 JP 5680407B2
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protein
fhl
amino acid
nucleic acid
seq
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JP2010528630A5 (enExample
JP2010528630A (ja
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ビンセント,ジョーン,ビー.
ヴィンドパッシンガー,クリスチャン
クヴァスホトフ,ステファン
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Centre for Addiction and Mental Health
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    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4707Muscular dystrophy
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
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    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53Immunoassay; Biospecific binding assay; Materials therefor
    • G01N33/566Immunoassay; Biospecific binding assay; Materials therefor using specific carrier or receptor proteins as ligand binding reagents where possible specific carrier or receptor proteins are classified with their target compounds
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • G01N33/6896Neurological disorders, e.g. Alzheimer's disease
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/28Neurological disorders
    • G01N2800/2878Muscular dystrophy
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/32Cardiovascular disorders
    • G01N2800/325Heart failure or cardiac arrest, e.g. cardiomyopathy, congestive heart failure

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  • General Physics & Mathematics (AREA)
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  • Biophysics (AREA)
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  • Gastroenterology & Hepatology (AREA)
  • Wood Science & Technology (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Peptides Or Proteins (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
JP2010510620A 2007-06-04 2008-06-04 新規x連鎖性筋疾患に関連するfhl1変異 Active JP5680407B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US93325107P 2007-06-04 2007-06-04
US60/933,251 2007-06-04
PCT/CA2008/001062 WO2008148193A1 (en) 2007-06-04 2008-06-04 Fhl1 mutations associated with novel x-linked muscular myopathies

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JP2010528630A JP2010528630A (ja) 2010-08-26
JP2010528630A5 JP2010528630A5 (enExample) 2013-11-07
JP5680407B2 true JP5680407B2 (ja) 2015-03-04

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US (3) US8580502B2 (enExample)
JP (1) JP5680407B2 (enExample)
CA (1) CA2688678C (enExample)
WO (1) WO2008148193A1 (enExample)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2478371B1 (en) * 2009-09-17 2016-05-04 Roche Diagnostics GmbH Multimarker panel for left ventricular hypertrophy
WO2016080887A1 (en) * 2014-11-17 2016-05-26 Biocistronix Ab Novel autoantigen in idiopathic inflammatory myopathies
CN105779464B (zh) * 2014-12-26 2019-06-14 深圳华大生命科学研究院 分离的编码fhl1突变体的核酸及其应用
JP6799863B2 (ja) * 2015-12-01 2020-12-16 学校法人 川崎学園 心疾患または筋疾患の診断薬
JP6719779B2 (ja) 2017-07-27 2020-07-08 白石工業株式会社 炭酸カルシウムを含む食品

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* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5239060A (en) 1986-07-25 1993-08-24 The Children's Medical Center Corporation Muscular dystrophy protein, dystrophin
WO2003072827A1 (en) * 2001-10-31 2003-09-04 Children's Hospital Medical Center Method for diagnosis and treatment of rheumatoid arthritis
WO2005113812A2 (en) * 2004-04-23 2005-12-01 Invitrogen Corporation Collections of matched biological reagents and methods for identifying matched reagents

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CA2688678A1 (en) 2008-12-11
US9617320B2 (en) 2017-04-11
US8580502B2 (en) 2013-11-12
US9150923B2 (en) 2015-10-06
WO2008148193A1 (en) 2008-12-11
CA2688678C (en) 2023-03-14
US20140162259A1 (en) 2014-06-12
US20100240039A1 (en) 2010-09-23
JP2010528630A (ja) 2010-08-26
US20160002309A1 (en) 2016-01-07

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