FBP1

Gene name: fructose-1,6-bisphosphatase 1
OMIM ID: 611570
Chromosome location: 9q22.32

Mutations

Disease/Phenotype	Fructose-1,6-bisphosphatase deficiency
Reference transcript	NM_001127628.1
DNA Change	c.685C>T
A.A. Change	p.Gln229Stop
Exon/Intron	exon 5
Mutation Type	substitution
Reference	Prahl P, Christensen E, Hansen L, Mortensen HB.[Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia]. Ugeskr Laeger. 2006 Nov 13;168(46):4014-5.

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