Fabry disease

OMIM:301500
Mode of inheritance:X-linked recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	GLA
DNA Change
A.A. Change	p.Glu212X
Exon/Intron	exon 4
Mutation Type	substitution
Reference	L. Chabraoui, H Talboui, A Berraho, K Azibi, J Dussaud, L Poenaru and C Caillaud, A novel nonsense mutation Q212X in a Moroccan Fabry patient J. Inherit Metab Dis. 26 (2003) suppl. 2 p191

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  Variant not named according to HGVS recommendations