Clinical utility gene card for: Oculocutaneous albinism (Q35150526)

24518832

6 August 2017

title

Clinical utility gene card for: Oculocutaneous albinism (English)

1 reference

6 August 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Karen Brøndum-Nielsen

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Birgit Lorenz

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Markus N Preising

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

publication date

12 February 2014

1 reference

24518832

European Journal of Human Genetics

6 August 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

5 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350605

Increasing the complexity: new genes and new types of 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=4350605

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350605

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive 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=4350605

Birth prevalence and mutation spectrum in danish patients with autosomal recessive 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=4350605

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350605

13 July 2018

Oculocutaneous albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350605

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350605

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus 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=4350605

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4350605

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=4350605

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient

13 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.307

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.307

Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.307

OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24518832

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.307

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

24518832

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518832%20AND%20SRC:MED&resulttype=core&format=json