title: A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.
authors.forename: M A
authors.initials: MA
authors.lastname: Karim
authors.forename: A J
authors.initials: AJ
authors.lastname: Parsian
authors.forename: M A
authors.initials: MA
authors.lastname: Cleves
authors.forename: J
authors.initials: J
authors.lastname: Bracey
authors.forename: M S
authors.initials: MS
authors.lastname: Elsayed
authors.forename: E
authors.initials: E
authors.lastname: Elsobky
authors.forename: A
authors.initials: A
authors.lastname: Parsian
mesh_terms: 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*
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human