A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor Clusters-Reference-Cited by-同舟云学术

A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor Clusters

Published:1998-06 Issue:6 Volume:62 Page:1452-1459
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Ruiz Agustín,Borrego Salud,Marcos Irene,Antiñolo Guillermo

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. GABAc receptors;Bormann;Trends Neurosci,1995

2. Identification of a γ-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4;Cutting;Genomics,1992

3. Cloning of the γ-aminobutyric acid (GABA) ρ1 cDNA: a GABA receptor subunit highly expressed in the retina;Cutting;Proc Natl Acad Sci USA,1991

4. Gamma-aminobutyric acidA receptor structure and function;DeLorey;J Biol Chem,1992

5. A comprehensive genetic map of the human genome based on 5264 microsatellites;Dib;Nature,1996

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