Condition: Glycogen Storage Disease Type VII
rs121918193 in
PFKM gene and
Glycogen Storage Disease Type VII
PMID 7825568 1995 Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
PMID 8889589 1996 Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
PMID 22133655 2012 Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
PMID 24427140 2013 First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
PMID 7513946 1994 Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
PMID 8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
PMID 8880699 1996 Muscle phosphofructokinase deficiency in two generations.
rs202143236 in
PFKM;MIR6505 gene and
Glycogen Storage Disease Type VII
PMID 8444874 1993 A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
PMID 8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
PMID 7825568 1995 Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.