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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
Author(s) -
Pohler E.,
Huber M.,
Boonen S.E.,
Zamiri M.,
Gregersen P.A.,
Sommerlund M.,
Ramsing M.,
Hohl D.,
McLean W.H.I.,
Smith F.J.D.
Publication year - 2014
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/bjd.12927
Subject(s) - hyperkeratosis , proband , keratoderma , palmoplantar keratoderma , dermatology , exon , medicine , locus (genetics) , genetics , sanger sequencing , pathology , biology , gene , mutation