IGHD II: A NovelGH-1Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion
نویسندگان
چکیده
منابع مشابه
Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion.
OBJECTIVE Four distinct familial types of isolated GH deficiency (IGHD) are classified, of which type II, IGHD II, is the autosomal dominant inherited form. Based on clinical data, it became evident that there is a wide variability in phenotype among the various GH-1 gene alterations leading to the disorder. As subjects suffering from IGHD II caused by the specific missense mutated P89L GH (C61...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2015
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2015-3265