Whole-exome sequencing identified a novel mutation in CHM of a Chinese family

Tang, H; Mao, J; Xiang, JJ; Liu, MJ; Li, HB; Wang, T

Wang, T (corresponding author), Nanjing Med Univ, Ctr Reprod & Genet, Affiliated Suzhou Hosp, Suzhou, Jiangsu, Peoples R China.; Wang, T (corresponding author), Suzhou Municipal Hosp, Ctr Reprod & Genet, Suzhou, Jiangsu, Peoples R China.; Li, HB (corresponding author), Ningbo Women & Childrens Hosp, Ningbo, Zhejiang, Peoples R China.

JOURNAL OF GENETICS, 2021; 100 (2):

Abstract

Choroideraemia (CHM) is a rare X-linked progressive-inherited retinal disease. In this study, we diagnosed and explored the genetic cause in a Chinese......

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