Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type 1 syndrome (Jaeken syndrome)

Nature Genetics

Volumn 16, Issue 1, 1997, Pages 88-92

  Matthijs, G ^a   Schollen, E ^a   Pardon, E ^a   Veiga Da Cunha, M ^a   Jaeken, J ^a   Cassiman, J J ^a   Van Schaftingen, E ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE DIPHOSPHATE MANNOSE; PHOSPHOMANNOMUTASE; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 16P; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME DEFICIENCY; GENE LOCATION; GENE MAPPING; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR CLONING; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

EID: 0031005847     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0597-88     Document Type: Article

References (19)