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Uniparental disomy as a mechanism for CERS 3 ‐mutated autosomal recessive congenital ichthyosis
Author(s) -
Polubothu S.,
Glover M.,
Holder S.E.,
Kinsler V.A.
Publication year - 2018
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.16999
Subject(s) - ichthyosis , uniparental disomy , genetics , congenital ichthyosis , macrocephaly , medicine , allele , locus (genetics) , pediatrics , biology , chromosome , karyotype , gene
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