Glycogen storage disease type Ia in Argentina: Two novel glucose-6-phosphatase mutations affecting protein stability

Molecular Genetics and Metabolism

Volumn 83, Issue 3, 2004, Pages 276-279

  Angaroni, Celia J ^a   De Kremer, Raquel Dodelson ^a   Argaraña, Carlos E ^b   Paschini Capra, Ana E ^a   Giner Ayala, Alicia N ^a   Pezza, Roberto J ^b   Pan, Chi Jiunn ^c   Chou, Janice Y ^c  

^a Catedra Clin Pediat Fac Cie M   (Argentina)

^b UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Argentine; Glucose 6 phosphatase; Glycogen storage disease type Ia; Mutational analyses

Indexed keywords

ARGININE; GLUCOSE 6 PHOSPHATASE; GLUTAMINE; MEMBRANE PROTEIN; THREONINE; TYROSINE;

ARGENTINA; ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; FAMILY; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN STABILITY; SITE DIRECTED MUTAGENESIS;

ANIMALS; ARGENTINA; BLOTTING, WESTERN; COS CELLS; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENE DELETION; GENE EXPRESSION; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PHOSPHORIC MONOESTER HYDROLASES;

ARGENTINA (FISH);

EID: 8144220497     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.06.010     Document Type: Article

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