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Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
title
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
main subject
Tanzania
0 references
oculocutaneous albinism
1 reference
based on heuristic
inferred from title
author
Richard A Spritz
series ordinal
1
object named as
R A Spritz
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
author name string
K Fukai
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
S A Holmes
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
J Luande
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
language of work or name
English
0 references
publication date
1 June 1995
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
volume
56
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
issue
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
page(s)
1320-1323
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
cites work
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108
retrieved
7 April 2017
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108
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7 April 2017
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108
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7 April 2017
DNA sequencing with chain-terminating inhibitors
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PubMed Central
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7 April 2017
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
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PubMed Central
reference URL
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7 April 2017
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108
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7 April 2017
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108
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7 April 2017
The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes
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reference URL
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7 April 2017
Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108
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28 September 2017
Molecular genetics of oculocutaneous albinism
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PubMed Central
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28 September 2017
Base substitution in an intervening sequence of a beta+-thalassemic human globin gene
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28 September 2017
Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment
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28 September 2017
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism
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Albinism in Nigeria. A clinical and social study
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28 September 2017
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.
1 reference
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reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801108
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30 May 2018
The Tanzanian human albino skin. Natural history
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30 May 2018
Genetic disorders of pigmentation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7762554
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1801108
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
PubMed publication ID
7762554
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801108
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
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