Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia

Brain and Development

Volumn 25, Issue 7, 2003, Pages 525-528

  Ono, Hiroaki ^a   Sakura, Nobuo ^a   Yamashita, Katsuko ^b   Yuasa, Isao ^c   Ohno, Kousaku ^c  

^a HIROSHIMA UNIVERSITY   (Japan)

^b SASAKI INSTITUTE   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

Author keywords

Congenital disorder of glycosylation; Nonsense mutation; Phosphomannomutase; PMM2; Transferrin

Indexed keywords

ARTICLE; ATAXIA; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CORRELATION ANALYSIS; ENZYME ASSAY; EXON; HEPATOMEGALY; HUMAN; LABORATORY TEST; LIVER DYSFUNCTION; MALE; MENTAL DEVELOPMENT; MOLECULAR DYNAMICS; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; NONSENSE MUTATION; PMM2 GENE;

EID: 0344441748     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00063-9     Document Type: Article

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