Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome

Journal of the Neurological Sciences

Volumn 270, Issue 1-2, 2008, Pages 197-200

  Eriguchi, Makoto ^a   Mizuta, Haruo ^a   Kurohara, Kazuhiro ^b   Fujitake, Junko ^c   Kuroda, Yasuo ^a  

^a SAGA UNIVERSITY   (Japan)

^b Saga Shakai hoken Hospital   (Japan)

^c KYOTO CITY HOSPITAL   (Japan)

Author keywords

Autosomal recessive disease; Cataract; Cerebellar atrophy; Loss of function; Marinesco Sj gren syndrome; Mental retardation; Mutation; SIL1 gene

Indexed keywords

ADULT; ARTICLE; CASE REPORT; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; JAPANESE; MALE; MARINESCO SJOGREN SYNDROME; PRIORITY JOURNAL; SIL1 GENE;

ADULT; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HOMOZYGOTE; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; SPINOCEREBELLAR DEGENERATIONS;

EID: 44649108908     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.02.012     Document Type: Article

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