Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15

X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was assigned to Xp22, by linkage analysis of a single pedigree with “X-linked dominant cone-rod degenerati...

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Autori principali: Mears, Alan J., Hiriyanna, Suja, Vervoort, Raf, Yashar, Beverly, Gieser, Linn, Fahrner, Stacey, Daiger, Stephen P., Heckenlively, John R., Sieving, Paul A., Wright, Alan F., Swaroop, Anand
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2000
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287869/
https://ncbi.nlm.nih.gov/pubmed/10970770
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