(Q34115318)

31 July 2017

title

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. (English)

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31 July 2017

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3

Andreas Janecke

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31 July 2017

author name string

Benigna von Brederlow

1

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31 July 2017

Hanno Bolz

2

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31 July 2017

Alicia La O Cabrera

4

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31 July 2017

Günther Rudolph

5

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31 July 2017

Birgit Lorenz

6

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31 July 2017

Eberhard Schwinger

7

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31 July 2017

Andreas Gal

8

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31 July 2017

publication date

1 March 2002

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31 July 2017

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31 July 2017

volume

19

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31 July 2017

issue

3

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31 July 2017

page(s)

268-273

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Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

31 July 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.10049

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10049

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10049

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10049

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10049

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10049

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10049

Haplotype analysis of the USH1D locus and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10049

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10049

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10049

Statistical features of human exons and their flanking regions

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10049

21 January 2018

Identifiers

DOI

10.1002/HUMU.10049

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31 July 2017

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