(Q59697893)

English

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

scientific article published on 18 November 2010

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scholarly article

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16 January 2020

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21085994%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

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inferred from title

1 reference

based on heuristic

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Caroline Rooryck

1

1 reference

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16 January 2020

10

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16 January 2020

Fanny Morice-Picard

2

object named as

Fanny Morice-Picard

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16 January 2020

8

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Thomy J L de Ravel

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16 January 2020

author name string

Eulalie Lasseaux

3

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16 January 2020

Dorothée Cailley

4

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16 January 2020

Hélène Dollfus

5

1 reference

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16 January 2020

Sabine Defoort-Dhellemme

6

1 reference

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16 January 2020

Bénédicte Duban-Bedu

7

1 reference

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16 January 2020

Alain Taieb

9

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16 January 2020

Benoît Arveiler

11

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16 January 2020

publication date

18 November 2010

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16 January 2020

1 reference

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16 January 2020

129

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16 January 2020

2

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16 January 2020

199-208

1 reference

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16 January 2020

https://scigraph.springernature.com/pub.10.1007/s00439-010-0913-5

0 references

A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

P gene mutations associated with oculocutaneous albinism type II (OCA2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of change in gene copy number

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copy number variation in human health, disease, and evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic rearrangements in inherited disease and cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21085994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-010-0913-5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21085994%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21085994%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

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