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Sjögren–Larsson syndrome in Brazil is caused by a common c.1108‐1G→C splice‐site mutation in the ALDH3A2 gene
Author(s) -
Auada M.P.,
Puzzi M.B.,
Cintra M.L.,
Steiner C.E.,
Alexandrino F.,
Sartorato E.L.,
Aguiar T.S.,
Azulay R.D.,
Carney G.,
Rizzo W.B.
Publication year - 2006
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.1365-2133.2006.07135.x
Subject(s) - photophobia , congenital ichthyosis , medicine , compound heterozygosity , ichthyosis , splice site mutation , genetics , spastic diplegia , genetic counseling , mutation , pediatrics , dermatology , gene , biology , surgery , exon , psychiatry , alternative splicing , cerebral palsy