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Medline ® Abstract for Reference 38

of 'Overview and classification of the inherited ichthyoses'

38
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The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.
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Arita K, Jacyk WK, Wessagowit V, van Rensburg EJ, Chaplin T, Mein CA, Akiyama M, Shimizu H, Happle R, McGrath JA
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J Invest Dermatol. 2007 Feb;127(2):490-3. Epub 2006 Sep 14.
 
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