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

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

doi:https://doi.org/10.3109/10425170109084470

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

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

Research output: Contribution to journal › Article › Research › peer-review

6 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	431-435
Journal	Mitochondrial DNA
Volume	12
DOIs	https://doi.org/10.3109/10425170109084470
Publication status	Published - 1 Dec 2001

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abstract = "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. {\textcopyright} 2001 OPA (Overseas Publishers Association) N.V.",

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AU - Cedano, Juan

AU - Oliva, Baldomero

AU - Piñol, Jaume

AU - Querol, Enrique

PY - 2001/12/1

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AB - 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.

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JO - Mitochondrial DNA

JF - Mitochondrial DNA

SN - 1940-1736

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