Open AccessNovel compound heterozygous mutations of ECM1 in a Chinese family with lipoid proteinosis
Author(s) -
Jianqiang Shi,
DiQing Luo,
Wei Wu,
Li Ding,
FangGu Li,
YanXia Cai
Publication year - 2019
Publication title -
dermatologica sinica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.604
H-Index - 17
eISSN - 2223-330X
pISSN - 1027-8117
DOI - 10.4103/ds.ds_23_18
Subject(s) - missense mutation , exon , compound heterozygosity , nonsense mutation , genodermatosis , genetics , nonsense , medicine , mutation , gene , chinese family , gene mutation , microbiology and biotechnology , biology
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