Elliptocytosis 2

OMIM:130600
Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism

Mutations

Gene Symbol	SPTA1
Reference transcript	NM_003126.2
DNA Change	c.620T>C
A.A. Change	p.Leu207Pro
Exon/Intron	exon 5
Mutation Type	substitution
Reference	Dalla Venezia N, Wilmotte R, Morl? L, Forissier A, Parquet N, Garbarz M, Rousset T, Dhermy D, Alloisio N, Delaunay J.An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism. Hum Genet. 1993 Feb;90(6):641-4.

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