Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene.
Department of Internal Medicine, Medical School, State University of Campinas, SP, Brazil. mauada@terra.com.br
M P
MP
Auada
M B
MB
Puzzi
M L
ML
Cintra
C E
CE
Steiner
F
F
Alexandrino
E L
EL
Sartorato
T S
TS
Aguiar
R D
RD
Azulay
G
G
Carney
W B
WB
Rizzo
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