Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.

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Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.

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2017 nî lūn-bûn

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2017年学术文章

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2017年学术文章

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Identification of the genetic ...... n families of Mexican descent.

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Identification of the genetic ...... n families of Mexican descent.

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label

Identification of the genetic ...... n families of Mexican descent.

@en

Identification of the genetic ...... n families of Mexican descent.

@nl

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Identification of the genetic ...... n families of Mexican descent.

@en

Identification of the genetic ...... n families of Mexican descent.

@nl

P1476

Identification of the genetic ...... n families of Mexican descent.

@en

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Adda Villanueva

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Bruno Lamontagne

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Eric Nudleman

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Géraldine Asselin

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Ian Mongrain

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John Suk

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Kameron Kishaba

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Karine Nadeau

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Keerti Tadimeti

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Lambert Busque

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P2860

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Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

A framework for variation discovery and genotyping using next-generation DNA sequencing data

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.

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1-7

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scholarly article

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10.1080/13816810.2017.1373830

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Marie-Pierre Dubé

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2017-09-25T00:00:00Z

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28945494

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6143363

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