Krabbe disease

OMIM:245200
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	GALC
Reference transcript	NM_000153.3
DNA Change	c.860G>A
A.A. Change	p.Cys287Tyr
Exon/Intron	exon 8
Mutation Type	substitution
Reference	Zerkaoui M, Ratbi I, Castellotti B, Gellera C, Lyahyai J, Kriouile Y, Sefiani A. Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. BMC Pediatr. 2015 Nov 13;15:182. doi: 10.1186/s12887-015-0490-9.

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Gene Symbol	GALC
Reference transcript	NM_000153.3
DNA Change	c.1622G>A
A.A. Change	p.Trp541*
Exon/Intron	exon 14
Mutation Type	substitution
Reference	Zerkaoui M, Ratbi I, Castellotti B, Gellera C, Lyahyai J, Kriouile Y, Sefiani A. Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. BMC Pediatr. 2015 Nov 13;15:182. doi: 10.1186/s12887-015-0490-9.

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