Open AccessGenetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction
Author(s) -
Jing-Mei Hong,
Miao Zhao,
Junjun He,
Xuejing Huang,
Zhiyuan Zhao,
WanJin Chen,
Ning Wang,
Jinjing Li
Publication year - 2020
Publication title -
chinese medical journal/chinese medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 63
eISSN - 2542-5641
pISSN - 0366-6999
DOI - 10.1097/cm9.0000000000001102
Subject(s) - smn1 , spinal muscular atrophy , sma* , digital polymerase chain reaction , motor neuron , induced pluripotent stem cell , multiplex ligation dependent probe amplification , exon , biology , gene dosage , copy number variation , genetics , microbiology and biotechnology , medicine , spinal cord , cancer research , gene , polymerase chain reaction , neuroscience , embryonic stem cell , gene expression , genome , mathematics , combinatorics