Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation

Molecular Genetics and Metabolism

Volumn 97, Issue 4, 2009, Pages 315-

  Chopra, M ^a,b   Jackson, R ^a,b   Durkie, M ^c   Beauchamp, N J ^c   Kirk, E P ^a  

^a SYDNEY CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c Sheffield Molecular Genetics Facility   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; GRANULOCYTE COLONY STIMULATING FACTOR;

CASE REPORT; CHILD; DIET THERAPY; FEMALE; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLYCOGEN STORAGE DISEASE TYPE 1; HEPATOMEGALY; HUMAN; INTRON; LETTER; NEUTROPENIA; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ANTIPORTERS; CHILD; FEMALE; GLYCOGEN STORAGE DISEASE TYPE I; HEPATOMEGALY; HUMANS; MONOSACCHARIDE TRANSPORT PROTEINS; PHENOTYPE; RNA SPLICE SITES;

EID: 67649986037     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.04.012     Document Type: Letter

References (5)

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2. Keller K.M., Schutz T., and Podskarbi T. A new mutation of the glucose-6-phosphatase gene in a 4 year old girl with oligosymptomatic glycogen storage disease type 1a. J. Pediatr. 132 (1998) 360-361
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