(Q50522919)

14 March 2018

title

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. (English)

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14 March 2018

author name string

Tassabehji M

series ordinal

1

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14 March 2018

Newton VE

series ordinal

2

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14 March 2018

Read AP

series ordinal

3

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14 March 2018

language of work or name

English

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publication date

1 November 1994

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14 March 2018

published in

Nature Genetics

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14 March 2018

volume

8

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14 March 2018

issue

3

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14 March 2018

page(s)

251-255

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14 March 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG1194-251

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%2FNG1194-251

7 January 2021

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG1194-251

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1194-251

7 January 2021

Mouse and hamster mutants as models for Waardenburg syndromes in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG1194-251

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%2FNG1194-251

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%2FNG1194-251

7 January 2021

A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage

1 reference

https://api.crossref.org/works/10.1038%2FNG1194-251

7 January 2021

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

1 reference

https://api.crossref.org/works/10.1038%2FNG1194-251

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1038%2FNG1194-251

7 January 2021

Identifiers

DOI

10.1038/NG1194-251

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14 March 2018

Dimensions Publication ID

1010358047

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1 reference

14 March 2018