Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Human Mutation

Volumn 16, Issue 5, 2000, Pages 386-394

  Matthijs, G ^a   Schollen, E ^a   Bjursell, C ^b   Erlandson, A ^b   Freeze, H ^c   Imtiaz, F ^d   Kjaergaard, S ^e   Martinsson, T ^b   Schwartz, M ^e   Seta, N ^f   Vuillaumier Barrot, S ^f   Westphal, V ^c   Winchester, B ^d  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b University Hospitals   (Sweden)

^c BURNHAM INSTITUTE   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e University of Copenhagen   (Denmark)

^f BICHAT HOSPITAL   (France)

Author keywords

Carbohydrate deficient glycoprotein syndrome; CDG Ia; CDGS; Congenital disorders of glycosylation; Phosphomannomutase 2; PMM2, mutation analysis; Type Ia

Indexed keywords

GENE PRODUCT; PROTEIN PMM2; UNCLASSIFIED DRUG;

CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD; EXONS; GENOTYPE; GLYCOSYLATION; HUMANS; INFANT; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); POLYMORPHISM, GENETIC;

EID: 0033736282     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y     Document Type: Review

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