Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency

Molecular Genetics and Metabolism

Volumn 76, Issue 3, 2002, Pages 207-210

  Matsuura, Toshinobu ^a   Chinen, Yasutsugu ^a   Arashiro, Rina ^a   Katsuren, Keisuke ^a   Tamura, Toshiya ^a   Hyakuna, Nobuyuki ^a   Ohta, Takao ^a  

^a UNIVERSITY OF THE RYUKYUS   (Japan)

Author keywords

Compound; FBP1; FBPase; Fructose 1,6 bisphosphatase; Gluconeogenesis; Mutation

Indexed keywords

1,6 BISPHOSPHATE; 6 PHOSPHATE; AMINO ACID; FRUCTOSE BISPHOSPHATASE; PHOSPHATE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CATALYSIS; CELL ASSAY; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FATHER; FEMALE; GENDER; GENE MUTATION; GENETIC ANALYSIS; GENETIC CONSERVATION; GLUCONEOGENESIS; HETEROZYGOTE; HUMAN; HUMAN CELL; JAPAN; LEUKOCYTE; MOTHER; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SIBLING;

BASE SEQUENCE; DNA PRIMERS; FEMALE; FRUCTOSE-BISPHOSPHATASE; GENOME, HUMAN; HETEROZYGOTE; HUMANS; JAPAN; METABOLISM, INBORN ERRORS; MUTATION; PEDIGREE;

EID: 0036374973     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00038-0     Document Type: Article

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