(Q41863553)

English

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

scientific article published on June 1994

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198130%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198130%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

oculocutaneous albinism

1 reference

based on heuristic

inferred from title

author name string

Kedda MA

1

1 reference

Europe PubMed Central

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27 October 2019

Stevens G

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198130%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Manga P

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198130%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Viljoen C

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198130%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Jenkins T

5

1 reference

Europe PubMed Central

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27 October 2019

Ramsay M

6

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27 October 2019

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publication date

1 June 1994

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Europe PubMed Central

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27 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

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27 October 2019

54

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27 October 2019

6

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27 October 2019

1078-1084

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198130%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Mutation of human short tandem repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Inappropriate use of albino animals as models in research.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Hypopigmentation in the Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Albinism and skin cancer in Southern Africa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

RFLP for BgIII at the human tyrosinase (TYR) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

A third Taql allele is detected by the probe pTD3–21 (D15S10) in Southern African chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918206

5 June 2018

Prevalence of albinism in the South African negro

1 reference

https://pubmed.ncbi.nlm.nih.gov/8198130

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8198130

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/8198130

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct Molecular Identification of the Mouse Pink-Eyed Unstable Mutation by Genome Scanning

1 reference

https://pubmed.ncbi.nlm.nih.gov/8198130

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region

1 reference

https://pubmed.ncbi.nlm.nih.gov/8198130

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198130%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198130%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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