(Q33597269)

28 July 2017

title

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

1 reference

https://api.crossref.org/works/10.1136/JMG.28.7.464

28 July 2017

main subject

oculocutaneous albinism

1 reference

1 reference

5 December 2022

3

R A Spritz

1 reference

28 July 2017

L. B. Giebel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832718

5 December 2022

M. A. Musarella

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832718

5 December 2022

language of work or name

English

0 references

publication date

1 July 1991

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016956

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832718

https://europepmc.org/articles/PMC1016956?pdf=render

5 December 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832718

https://syndication.highwire.org/content/doi/10.1136/jmg.28.7.464

5 December 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.7.464

Journal of Medical Genetics

5 December 2022

published in

1 reference

28 July 2017

volume

28

1 reference

28 July 2017

issue

7

1 reference

28 July 2017

page(s)

464-467

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

Molecular basis for the heterogeneity of human tyrosinase

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

Isolation of human tyrosinase from cultured melanoma cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

Characteristic sequences in the upstream region of the human tyrosinase gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

DNA sequencing with chain-terminating inhibitors

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016956

14 July 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/1832718

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1832718

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

series ordinal

11

1 reference

https://api.crossref.org/works/10.1136/JMG.28.7.464

5 December 2022

Identifiers

DOI

10.1136/JMG.28.7.464

1 reference

28 July 2017

1 reference

28 July 2017

1 reference