Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene.
Auada
M P
MP
Department of Internal Medicine, Medical School, State University of Campinas, SP, Brazil. mauada@terra.com.br
Puzzi
M B
MB
Cintra
M L
ML
Steiner
C E
CE
Alexandrino
F
F
Sartorato
E L
EL
Aguiar
T S
TS
Azulay
R D
RD
Carney
G
G
Rizzo
W B
WB
D000293:Adolescent; D000328:Adult; D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
D022821:RNA Splice Sites; D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase