Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

Human mutation

Volumn 15, Issue 4, 2000, Pages 381-

  Rake, J P ^a   ten Berge, A M ^a   Visser, G ^a   Verlind, E ^a   Niezen Koning, K E ^a   Buys, C H ^a   Smit, G P ^a   Scheffer, H ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ADULT; ARTICLE; CASE REPORT; ENZYMOLOGY; EXON; FEMALE; FRAMESHIFT MUTATION; GENETICS; GENOTYPE; GLYCOGEN STORAGE DISEASE; HUMAN; MALE; NUCLEAR FAMILY; PHENOTYPE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; EXONS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE; HUMANS; MALE; NUCLEAR FAMILY; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0034164503     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(200004)15:4<381::aid-humu13>3.0.co;2-k     Document Type: Article

References (0)