Baidu
map

MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients

Hassan, HA; Fahmy, NA; El-Bagoury, NM; Eissa, NR; Sharaf-Eldin, WE; Issa, MY; Zaki, MS; Essawi, ML

Hassan, HA (通讯作者),Human Genet & Genome Res Inst, Natl Res Ctr, Dept Med Mol Genet, 33 El-Bohouth St, Cairo 12311, Egypt.

EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2022; 23 (1):

Abstract

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease representing the most prevalent monogenic cause of infant mo......

Full Text Link


Baidu
map
Baidu
map
Baidu
map