Variable Phenotypes in Familial Isolated Growth Hormone Deficiency Caused by a G6664A Mutation in the GH-1 Gene | Zendy

Ora Hess | Zendy; Yasir Hujeirat | Zendy; Michael P. Wajnrajch | Zendy; Stavit A. Shalev | Zendy; Zvi Zadik | Zendy; Idit Lavi | Zendy; Yardena TenenbaumRakover | Zendy

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Variable Phenotypes in Familial Isolated Growth Hormone Deficiency Caused by a G6664A Mutation in the GH-1 Gene

Author(s) -

Ora Hess,

Yasir Hujeirat,

Michael P. Wajnrajch,

Stavit A. Shalev,

Zvi Zadik,

Idit Lavi,

Yardena TenenbaumRakover

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-0684

Subject(s) - ighd , bone age , medicine , endocrinology , mutation , short stature , genotype , context (archaeology) , polymorphism (computer science) , genetics , biology , growth hormone deficiency , growth hormone , gene , hormone , paleontology

G to A transition at position 6,664 (G6664A) in human GH-1 results in the substitution of arginine by histidine at position 183 (R183H) of the GH molecule and causes familial isolated GH deficiency type II (IGHD II).

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