Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Fructose-1,6-bisphosphatase deficiency

OMIM:229700
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolFBP1
Reference transcriptNM_001127628.1
DNA Changec.685C>T
A.A. Changep.Gln229Stop
Exon/Intronexon 5
Mutation Typesubstitution
ReferencePrahl 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.