Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

European Journal of Human Genetics

Volumn 6, Issue 6, 1998, Pages 603-611

  Bjursell, Cecilia ^a   Wahlström, Jan ^a   Berg, Kerstin ^a   Stibler, Helena ^b   Kristiansson, Bengt ^a   Matthijs, Gert ^c   Martinsson, Tommy ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

CDG I; Mutation detection; PMM2; Prenatal diagnosis; Sequencing

Indexed keywords

PHOSPHOMANNOMUTASE;

ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE SEVERITY; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC MARKER; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCANDINAVIA;

EID: 0032406371     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200234     Document Type: Article

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