The gene causing the Best's macular dystrophy (BMD) encodes a putative ion exchanger

Antonio Gómez, Juan Cedano, Baldomero Oliva, Jaume Piñol, Enrique Querol

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Resum

Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2, is an autosomal dominant disease that causes loss of vision. The causative gene encodes a 585 amino acids protein called bestrophin with unknown function. From bioinformatics analysis, a putative ion exchanger function for bestrophin can be suggested. © 2001 OPA (Overseas Publishers Association) N.V.
Idioma originalAnglès
Pàgines (de-a)431-435
RevistaMitochondrial DNA
Volum12
DOIs
Estat de la publicacióPublicada - 1 de des. 2001

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