Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.

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Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Investigating the disease asso ...... initis pigmentosa cohort data.

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Investigating the disease asso ...... initis pigmentosa cohort data.

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Investigating the disease asso ...... initis pigmentosa cohort data.

@en

Investigating the disease asso ...... initis pigmentosa cohort data.

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Investigating the disease asso ...... initis pigmentosa cohort data.

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Investigating the disease asso ...... initis pigmentosa cohort data.

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P1476

Investigating the disease asso ...... initis pigmentosa cohort data.

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Evan M Jones

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Mariana DuPont

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Mingchu Xu

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Rui Chen

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P2860

Retinitis pigmentosa

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Mutations in human IFT140 cause non-syndromic retinal degeneration

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

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1-2

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scholarly article

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10.1080/13816810.2017.1418388

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2017-12-28T00:00:00Z

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29283788

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6084783

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