Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

American Journal of Human Genetics

Volumn 62, Issue 3, 1998, Pages 542-550

  Matthijs, Gert ^a   Schollen, Els ^a   Van Schaftingen, Emile ^c   Cassiman, Jean Jacques ^a   Jaeken, Jaak ^b  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c International Institute of Cellular and Molecular Pathology   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; PHOSPHOMANNOMUTASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 16P; CONGENITAL DISORDER OF GLYCOSYLATION; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031981557     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301763     Document Type: Article

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