Open AccessPhenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Author(s) -
Adrienn Sulák,
Kornélia Tripolszki,
Katalin Farkas,
Márta Széll,
Nikoletta Nagy
Publication year - 2017
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 - 10.1016/j.dsi.2017.08.001
Subject(s) - missense mutation , lamellar ichthyosis , genetics , phenotype , congenital ichthyosis , ichthyosis , mutation , splice site mutation , compound heterozygosity , medicine , gene , biology , exon , alternative splicing
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