The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in t1ransglutaminase 1 [4]

Journal of Investigative Dermatology

Volumn 127, Issue 2, 2007, Pages 490-493

  Arita, Ken ^a,b   Jacyk, Witold K ^c   Wessagowit, Vesarat ^a,d   Van Rensburg, Elizabeth Jansen ^c   Chaplin, Tracy ^e   Mein, Charles A ^f   Akiyama, Masashi ^b   Shimizu, Hiroshi ^b   Happle, Rudolf ^g   McGrath, John A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF PRETORIA   (South Africa)

^d Institute of Dermatology Thailand   (Thailand)

^e CRUK   (United Kingdom)

^f QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^g PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GENOMIC DNA; LEUCINE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ACANTHOSIS; AUTOSOMAL RECESSIVE DISORDER; BATHING SUIT ICHTHYOSIS; CHROMOSOME 14Q; CLINICAL FEATURE; GENE; GENE MAPPING; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; HYBRIDIZATION; HYPERKERATOSIS; ICHTHYOSIS; LAMELLAR ICHTHYOSIS; LETTER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN CROSS LINKING; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SOUTH AFRICA; TGM1 GENE;

ADOLESCENT; ADULT; ARGININE; CHILD; FEMALE; HOMOZYGOTE; HUMANS; ICHTHYOSIS, LAMELLAR; LEUCINE; MALE; MUTATION, MISSENSE; SOUTH AFRICA; TRANSGLUTAMINASES;

EID: 33846250414     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700550     Document Type: Letter

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