Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. (Q34299469)

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23 November 2019

title

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments (English)

1 reference

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23 November 2019

4

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23 November 2019

Amparo Navea

7

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23 November 2019

author name string

Elena Aller

1

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23 November 2019

Carmen Nájera

2

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23 November 2019

José María Millán

3

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23 November 2019

Herminio Pérez-Garrigues

5

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23 November 2019

Concepción Vilela

6

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23 November 2019

Magdalena Beneyto

8

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23 November 2019

publication date

1 May 2004

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European Journal of Human Genetics

23 November 2019

published in

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23 November 2019

volume

12

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23 November 2019

issue

5

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23 November 2019

page(s)

407-410

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Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

23 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201138

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201138

Identification of novel USH2A mutations: implications for the structure of USH2A protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201138

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201138

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201138

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201138