Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

出版年份 2017 全文链接

标题

作者

关键词

Inositol 1,4,5 tri-phosphate receptor (InsP3) type 1 (ITPR1), Partial aniridia, Cerebellar atrophy, Intellectual disability

出版物

Volume 628, Issue -, Pages 141-145

出版商

Elsevier BV

发表日期

2017-07-09

DOI

10.1016/j.gene.2017.07.017

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