A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation la (CDG-la) caused by phosphomannomutase deficiency

Human Molecular Genetics

Volumn 11, Issue 5, 2002, Pages 599-604

  Westphal, Vibeke ^a   Kjaergaard, Susanne ^b   Schollen, Els ^c   Martens, Kevin ^c   Grunewald, Stephanie ^d   Schwartz, Marianne ^b   Matthijs, Gert ^c   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b Rigshospitalet   (Denmark)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALG6; GENE PRODUCT; GLUCOSYLTRANSFERASE; PHENYLALANINE; PHOSPHOMANNOMUTASE; SERINE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION IA; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME DEFICIENCY; ENZYME GLYCOSYLATION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOME; GENOTYPE; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MORTALITY; MULTIFACTORIAL GENETIC DISORDER; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; COHORT STUDIES; EXONS; GALACTOSYLTRANSFERASES; GENE FREQUENCY; GLUCOSYLTRANSFERASES; GLYCOSYLATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MUTATION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); SACCHAROMYCES CEREVISIAE; SERINE; VARIATION (GENETICS);

SACCHAROMYCES; SACCHAROMYCES CEREVISIAE;

EID: 0036501072     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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