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Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome
Author(s) -
Martignago B.C.F.,
LaiCheong J.E.,
Liu L.,
Mc Grath J.A.,
Cestari T.F.
Publication year - 2007
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2007.08219.x
Subject(s) - haplotype , genodermatosis , genetics , frameshift mutation , allele , biology , mutation , single nucleotide polymorphism , oculocutaneous albinism , gene , exon , poikiloderma , genotype