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注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa
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Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband
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Microperimetry and OCT findings in female carriers of choroideremia
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Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene
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A skewed view of X chromosome inactivation
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A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa
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Perspective on genes and mutations causing retinitis pigmentosa
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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: Genotype-phenotype correlations and impact on genetic counseling
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Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene
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Remodeling of the human retina in choroideremia:: Rab escort protein 1 (REP-1) mutations
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X chromosomes alternate between two states prior to random X-inactivation
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Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation
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An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene
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Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data
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