Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1

Clinical Genetics

Volumn 55, Issue 1, 1999, Pages 50-54

  Kondo, Ikuko ^a   Mizugishi, K ^b   Yoneda, Y ^c   Hashimoto, T ^d   Kuwajima, K ^e   Yuasa, I ^f   Shigemoto, K ^a   Kuroda, Y ^c  

^a EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c UNIVERSITY OF TOKUSHIMA   (Japan)

^d National Center of Neurology and Psychiatry   (Japan)

^e Ibaraki Pref Handicapped C ^*  (Japan)

^f TOTTORI UNIVERSITY   (Japan)

Author keywords

CDG1; DNA polymorphism; Missense mutation; PMM2

Indexed keywords

PHOSPHOMANNOMUTASE;

ADOLESCENT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CAUCASIAN; CHROMOSOME 16P; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DNA SEQUENCE; EXON; FEMALE; GENE MAPPING; GENETIC HETEROGENEITY; HUMAN; JAPAN; MALE; MISSENSE MUTATION; OLIVOPONTOCEREBELLAR ATROPHY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; STROKE;

ADOLESCENT; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; HUMANS; ISOELECTRIC FOCUSING; JAPAN; MALE; MUTATION, MISSENSE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

ATAXIA;

EID: 0032959273     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550109.x     Document Type: Article

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