A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy

Shelkowitz, E; Chan, CM; Jones, T; Nakano, SJ; Meeks, NJL

Meeks, NJL (通讯作者)，Childrens Hosp Colorado, Sect Clin Genet & Metab, Dept Pediat, 13123 E 16th Ave, Aurora, CO 80045 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (7): 2147

Abstract

The GNAS gene (OMIM#139320), located on chromosome 20q13.2, encodes for the alpha-subunit of the stimulatory signaling protein, Gs alpha protein. GNAS......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索