The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.
Arita
Ken
K
Jacyk
Witold K
WK
Wessagowit
Vesarat
V
van Rensburg
Elizabeth Jansen
EJ
Chaplin
Tracy
T
Mein
Charles A
CA
Akiyama
Masashi
M
Shimizu
Hiroshi
H
Happle
Rudolf
R
McGrath
John A
JA
D000293:Adolescent; D000328:Adult; D001120:Arginine; D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000473:pathology*; D007930:Leucine; D008297:Male; D020125:Mutation, Missense; D013019:South Africa; D011503:Transglutaminases / Q000235:genetics*
D001120:Arginine; D011503:Transglutaminases; C105804:transglutaminase 1; D007930:Leucine