A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico (Q35194306)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434585%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

title

A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434585%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

main subject

oculocutaneous albinism

1 reference

W S Oetting

1

1 reference

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12 October 2019

C J Witkop

2

1 reference

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12 October 2019

S A Brown

3

1 reference

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12 October 2019

R Colomer

4

1 reference

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12 October 2019

J P Fryer

5

1 reference

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12 October 2019

K E Bloom

6

1 reference

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12 October 2019

R A King

7

1 reference

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12 October 2019

language of work or name

English

0 references

publication date

1 January 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434585%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

12 October 2019

published in

1 reference

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12 October 2019

volume

52

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12 October 2019

issue

1

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12 October 2019

page(s)

17-23

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

12 October 2019

cites work

1 reference

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Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

RFLP for BgIII at the human tyrosinase (TYR) locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

Dinucleotide repeat polymorphism at the human tyrosinase gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

PCR detection of a Taql polymorphism at the CCAATT box of the human tyrosinase (TYR) gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

An MboI polymorphism at codon 192 of the human tyrosinase gene is present in Asians and Afrocaribbeans

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

Detection of specific sequences among DNA fragments separated by gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

DNA sequencing with chain-terminating inhibitors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682128

Biochemistry of melanin formation

13 July 2018

1 reference

12 December 2020

1 reference

12 December 2020

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism

1 reference

12 December 2020

Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59

1 reference

12 December 2020

Molecular Analysis of an Extended Family with Type IA (Tyrosinase-Negative) Oculocutaneous Albinism

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434585%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

PubMed publication ID

8434585

1 reference