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Application filed by Гудрун Раппольд-ХоербрандfiledCriticalГудрун Раппольд-Хоербранд
Priority claimed from PCT/EP1997/005355external-prioritypatent/WO1998014568A1/en
Publication of EA199900339A1publicationCriticalpatent/EA199900339A1/en
Measuring Or Testing Involving Enzymes Or Micro-Organisms
(AREA)
Abstract
В заявке описана выделенная молекула нуклеиновой кислоты, которая кодирует полипептиды, содержащие домен гомеобокса, состоящий из 60 аминокислот и имеющий аминокислотную последовательность [SEQ ID NO:1], и обладает регуляторной активностью в отношении роста человека. Выявлено три новых гена, расположенных в области размером 500 т.п.н. на Х- и Y-хромосоме, имеющей решающее значение для низкого роста. По меньшей мере, один из этих генов ответственен за фенотип низкого роста. кДНК, соответствующая этому гену, может применяться в качестве инструмента диагностики и для дополнительной характеристики молекул, определяющих фенотип низкого роста. Кроме того, идентификация генного продукта гена позволяет предложить новые способы и методы развития улучшенных способов лечения низкого роста.Международная заявка была опубликована вместе с отчетом о международном поиске.The application describes an isolated nucleic acid molecule that encodes polypeptides containing a homeobox domain consisting of 60 amino acids and having the amino acid sequence [SEQ ID NO: 1], and has regulatory activity on human growth. Three new genes have been identified, located in a 500 kb region. on the X and Y chromosomes that are critical for short stature. At least one of these genes is responsible for the low growth phenotype. The cDNA corresponding to this gene can be used as a diagnostic tool and for the additional characterization of molecules that determine the low-growth phenotype. In addition, the identification of the gene product of a gene allows us to propose new ways and methods for developing improved methods for treating low growth. The international application was published along with an international search report.
EA199900339A1996-10-011997-09-29
HUMAN GROWTH GENE AND AREA GENE RESPONSIBLE FOR LOW GROWTH
EA199900339A1
(en)
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