Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations

Human mutation

Volumn 15, Issue 1, 2000, Pages 115-116

  Seydewitz, Hans H ^a   Matern, Dietrich ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; CHILD; ETHNOLOGY; FEMALE; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; INFANT; MALE; METHODOLOGY; MOLECULAR BIOLOGY; MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; ALLELES; CHILD; FEMALE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; INFANT; MALE; MOLECULAR BIOLOGY; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0033629978     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W     Document Type: Article

References (0)