Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

PURPOSE: To document the progression of disease in male and female members of a previously described family with X-linked dominant retinitis pigmentosa (RP) caused by a de novo insertion after nucleotide 173 in exon ORF15 of RPGR. METHODS: The clinical records of 19 members of family UTAD054 were re...

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Hlavní autoři: Wu, DM, Khanna, H, Atmaca-Sonmez, P, Sieving, PA, Branham, K, Othman, M, Swaroop, A, Daiger, SP, Heckenlively, JR
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2920623/
https://ncbi.nlm.nih.gov/pubmed/19893586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2009.270
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