Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb02392.x/fullpdf
Reference44 articles.
1. Retinitis pigmentosa in Spain;Ayuso;Clin Genet,1995
2. Polymorphisms and rare sequence variants at the ROM1 locus;Bascom;Hum Mol Genet,1993a
3. Cloning of the human and murine ROM1 genes: genomic organization and sequence conservations;Bascom;Hum Mol Genet,1993b
4. Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa;Bayés;Hum Mutat,1995a
5. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families;Bayés;Hum Genet,1995b
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1. PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease;Human Mutation;2021-09-20
2. Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients;Egyptian Journal of Medical Human Genetics;2015-10
3. Gene mutations in retinitis pigmentosa and their clinical implications;Clinica Chimica Acta;2005-01
4. Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26);The American Journal of Human Genetics;2004-01
5. Homozygosity Mapping of Autosomal Recessive Retinitis Pigmentosa Locus (RP22) on Chromosome 16p12.1–p12.3;Genomics;1998-03
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