Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

X-linked retinitis pigmentosa (XLRP) is a severe form of inherited progressive retinal degeneration. The RP3 (retinitis pigmentosa type 3) locus at Xp21.1 is believed to account for the disease in the majority of XLRP families. Linkage analysis and identification of patients with chromosomal deletio...

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Autores principales: Fujita, R, Buraczynska, M, Gieser, L, Wu, W, Forsythe, P, Abrahamson, M, Jacobson, S G, Sieving, P A, Andréasson, S, Swaroop, A
Formato: Artigo
Lenguaje:Inglês
Publicado: 1997
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715956/
https://ncbi.nlm.nih.gov/pubmed/9326322
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