IL142015A0 - Detection of mutations in a gene encoding 1kb kinase-complex-associated protein to diagnose familial dysautonomia - Google Patents

Detection of mutations in a gene encoding 1kb kinase-complex-associated protein to diagnose familial dysautonomia

Info

Publication number
IL142015A0
IL142015A0 IL14201501A IL14201501A IL142015A0 IL 142015 A0 IL142015 A0 IL 142015A0 IL 14201501 A IL14201501 A IL 14201501A IL 14201501 A IL14201501 A IL 14201501A IL 142015 A0 IL142015 A0 IL 142015A0
Authority
IL
Israel
Prior art keywords
mutations
kinase
complex
detection
gene encoding
Prior art date
Application number
IL14201501A
Other languages
English (en)
Inventor
Berish Y Rubin
Sylvia L Anderson
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed filed Critical
Publication of IL142015A0 publication Critical patent/IL142015A0/xx

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
IL14201501A 2001-01-17 2001-03-14 Detection of mutations in a gene encoding 1kb kinase-complex-associated protein to diagnose familial dysautonomia IL142015A0 (en)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US26228401P 2001-01-17 2001-01-17

Publications (1)

Publication Number Publication Date
IL142015A0 true IL142015A0 (en) 2002-03-10

Family

ID=22996904

Family Applications (1)

Application Number Title Priority Date Filing Date
IL14201501A IL142015A0 (en) 2001-01-17 2001-03-14 Detection of mutations in a gene encoding 1kb kinase-complex-associated protein to diagnose familial dysautonomia

Country Status (4)

Country Link
US (5) US20020168656A1 (de)
EP (1) EP1225232A3 (de)
CA (1) CA2366046A1 (de)
IL (1) IL142015A0 (de)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB2282446B (en) * 1992-05-29 1996-10-02 Gen Hospital Corp Use of genetic markers to diagnose familial dysautonomia
US7388093B2 (en) * 2001-01-06 2008-06-17 The General Hospital Corporation Gene for identifying individuals with familial dysautonomia
IL266882B2 (en) * 2012-01-11 2025-11-01 Ionis Pharmaceuticals Inc Compositions and methods for modulation of ikbkap splicing

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5387506A (en) * 1992-05-29 1995-02-07 The General Hospital Corporation Use of genetic markers to diagnose familial dysautonomia
GB2282446B (en) * 1992-05-29 1996-10-02 Gen Hospital Corp Use of genetic markers to diagnose familial dysautonomia
FR2722295B1 (fr) * 1994-07-07 1996-10-04 Roussy Inst Gustave Methode d'analyse d'adn dite sscp et gel d'electro-phorene
US5891719A (en) * 1997-11-16 1999-04-06 Tularik Inc. IKAP nucleic acids
US7388093B2 (en) * 2001-01-06 2008-06-17 The General Hospital Corporation Gene for identifying individuals with familial dysautonomia

Also Published As

Publication number Publication date
EP1225232A3 (de) 2003-04-16
US20020168656A1 (en) 2002-11-14
US20100291552A1 (en) 2010-11-18
EP1225232A2 (de) 2002-07-24
CA2366046A1 (en) 2002-07-17
US20110229899A1 (en) 2011-09-22
US20130344483A1 (en) 2013-12-26
US20130034855A1 (en) 2013-02-07

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