(Q35888959)

10 August 2017

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel (English)

1 reference

10 August 2017

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oculocutaneous albinism

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6

R A Spritz

1 reference

10 August 2017

R Gershoni-Baruch

1

1 reference

10 August 2017

A Rosenmann

2

1 reference

10 August 2017

S Droetto

3

1 reference

10 August 2017

S Holmes

4

1 reference

10 August 2017

R K Tripathi

5

1 reference

10 August 2017

language of work or name

English

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publication date

1 April 1994

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

54

1 reference

10 August 2017

4

1 reference

10 August 2017

586-594

1 reference

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

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

Molecular basis for the heterogeneity of human tyrosinase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

RFLP for BgIII at the human tyrosinase (TYR) locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

Mutational mapping of the catalytic activities of human tyrosinase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

Detection of specific sequences among DNA fragments separated by gel electrophoresis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

DNA sequencing with chain-terminating inhibitors

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918101

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

11 July 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions

1 reference

12 December 2020

Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene

1 reference

12 December 2020

Molecular genetics of oculocutaneous albinism

1 reference

12 December 2020

Identifiers

1 reference

10 August 2017

PubMed publication ID

8128955

1 reference