A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.
Karim
M A
MA
Parsian
A J
AJ
Cleves
M A
MA
Bracey
J
J
Elsayed
M S
MS
Elsobky
E
E
Parsian
A
A
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D004534:Egypt; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D013132:Spinocerebellar Degenerations / Q000235:genetics*
D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human