A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome.
Willemsen
M A
MA
Steijlen
P M
PM
de Jong
J G
JG
Rotteveel
J J
JJ
IJlst
L
L
van Werkhoven
M A
MA
Wanders
R J
RJ
D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D000595:Amino Acid Sequence; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017421:Sequence Analysis; D017384:Sequence Deletion; D016111:Sjogren-Larsson Syndrome / Q000235:genetics*
D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase