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A case of B jörnstad syndrome caused by novel compound heterozygous mutations in the BCS 1L gene
Author(s) -
Yanagishita T.,
Sugiura K.,
Kawamoto Y.,
Ito K.,
Marubashi Y.,
Taguchi N.,
Akiyama M.,
Watanabe 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.12736
Subject(s) - compound heterozygosity , genetics , gene , mutation , computational biology , biology
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