(Q50524101)

14 March 2018

title

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. (English)

1 reference

14 March 2018

author name string

Hughes AE

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14 March 2018

Newton VE

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14 March 2018

Liu XZ

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14 March 2018

Read AP

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14 March 2018

language of work or name

English

0 references

publication date

1 August 1994

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14 March 2018

published in

Nature Genetics

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14 March 2018

volume

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14 March 2018

issue

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14 March 2018

page(s)

509-512

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14 March 2018

Hereditary inner-ear abnormalities in animals. Relationships with human abnormalities.

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

Mouse and hamster mutants as models for Waardenburg syndromes in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-509

7 January 2021

Identifiers

DOI

10.1038/NG0894-509

1 reference

14 March 2018

1 reference

14 March 2018