Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2) (Q24673202)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

main subject

Tanzania

0 references

oculocutaneous albinism

1 reference

R A Spritz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

K Fukai

1 reference

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25 October 2019

S A Holmes

series ordinal

1 reference

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25 October 2019

J Luande

series ordinal

1 reference

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25 October 2019

language of work or name

English

0 references

publication date

1 June 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

25 October 2019

published in

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25 October 2019

volume

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25 October 2019

issue

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25 October 2019

page(s)

1320-1323

1 reference

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A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

25 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

DNA sequencing with chain-terminating inhibitors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Molecular genetics of oculocutaneous albinism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Albinism in Nigeria. A clinical and social study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

The Tanzanian human albino skin. Natural history

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Albinism and skin cancer in Southern Africa.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108

Genetic disorders of pigmentation

30 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7762554

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

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25 October 2019

PubMed publication ID

7762554

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json