Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

Brain and Development

Volumn 21, Issue 4, 1999, Pages 223-228

  Mizugishi, Kiyomi ^a   Yamanaka, Keiko ^b   Kuwajima, Katsuko ^b   Yuasa, Isao ^c   Shigemoto, Kazuhiro ^d   Kondo, Ikuko ^d  

^a UNIVERSITY OF TOKYO   (Japan)

^b Ibaraki Children's Hospital   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

^d EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Carbohydrate deficient glycoprotein syndrome type I; Chromosome 16p; Isoelectric focusing study; Phosphomannomutase

Indexed keywords

GLYCOPROTEIN; PHOSPHOMANNOMUTASE;

ADULT; ARTICLE; CARBOHYDRATE ANALYSIS; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHROMOSOME 16P; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DISORDER OF GLYCOSYLATION; DNA SEQUENCE; EXON; FEMALE; GENE MAPPING; HUMAN; ISOELECTRIC FOCUSING; JAPAN; LIVER DYSFUNCTION; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; PONS; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SIBLING; STROKE;

ADOLESCENT; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ISOELECTRIC FOCUSING; JAPAN; MUTATION, MISSENSE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); POLYMERASE CHAIN REACTION; TRANSFERRIN;

EID: 0032995054     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(99)00004-2     Document Type: Article

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