(Q50522919)

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

scientific article published in November 1994

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

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

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

author name string

Tassabehji M

1

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

Newton VE

2

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

Read AP

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

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publication date

1 November 1994

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

Nature Genetics

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Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

8

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

3

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

251-255

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

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/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

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/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

Mouse and hamster mutants as models for Waardenburg syndromes in humans

1 reference

https://api.crossref.org/works/10.1038/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

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/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

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/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

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/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

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/NG1194-251

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/NG1194-251

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 March 2018

http://europepmc.org/abstract/MED/7874167

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