Open AccessNovel mutation in SP 2 in a Chinese pedigree with Neural tube defects
Author(s) -
Liu BeiHong,
Wang Jing,
Li CongMin,
Qi Lin,
Song YanHong,
Pan Hong,
Li TengYan,
Wang BinBin
Publication year - 2018
Publication title -
cns neuroscience and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.403
H-Index - 69
eISSN - 1755-5949
pISSN - 1755-5930
DOI - 10.1111/cns.12988
Subject(s) - genetics , exome sequencing , neural tube , missense mutation , biology , frameshift mutation , exome , nonsense mutation , nonsense , proband , consanguinity , mutation , gene , embryo