A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family

To analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random X-chromosome inactivation in a large pedigree with pseudohypertrophic mu...

Source: BMC Medical Genomics - February 1, 2024 Category: Genetics & Stem Cells Authors: Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju and Yan-Shan Liu Tags: Research Source Type: research