Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia

American Journal of Medical Genetics

Volumn 92, Issue 2, 2000, Pages 90-94

  Takahashi, Kazutoshi ^a   Akanuma, Jun ^a   Matsubara, Yoichi ^a   Fujii, Kunihiro ^a   Kure, Shigeo ^a   Suzuki, Yoichi ^a   Wataya, Kaoru ^a   Sakamoto, Osamu ^a   Aoki, Yoko ^a   Ogasawara, Masahito ^a   Ohura, Toshihiro ^a   Miyabayashi, Shigeaki ^a   Narisawa, Kuniaki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Allelic heterogeneity; DNA diagnosis; Glucose 6 phosphatase gene; Glycogen storage disease type Ia

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FAMILY STUDY; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 1; HOMOZYGOSITY; HUMAN; JAPAN; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE;

AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; BETA-GALACTOSIDASE; COS CELLS; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; JAPAN; MALE; MUTATION; POINT MUTATION; RECOMBINANT FUSION PROTEINS;

EID: 0034657037     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000515)92:2<90::AID-AJMG2>3.0.CO;2-H     Document Type: Article

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