Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

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Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

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Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

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Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

@en

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

@nl

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Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

@en

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

@nl

P1476

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

@en

P2093

Colleen G Bilancia

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Jesse D Sengillo

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Stephen H Tsang

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Vaidehi Jobanputra

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Winston Lee

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P2860

Retinitis pigmentosa

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A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Correction of Monogenic and Common Retinal Disorders with Gene Therapy.

P2888

s10633-018-9626-1

P31

scholarly article

P356

10.1007/S10633-018-9626-1

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P577

2018-02-06T00:00:00Z

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P698

29411205

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P932

6015729

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