A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism (Q44150153)

30 November 2017

title

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism (English)

1 reference

30 November 2017

Aihua Wei

1

1 reference

30 November 2017

Yu Wang

2

1 reference

30 November 2017

Yan Long

3

1 reference

30 November 2017

Yi Wang

4

1 reference

30 November 2017

Xiaoli Guo

5

1 reference

30 November 2017

Zhiyong Zhou

6

1 reference

30 November 2017

Wei Zhu

7

1 reference

30 November 2017

Juntao Liu

8

1 reference

30 November 2017

Xuming Bian

9

1 reference

30 November 2017

Shi Lian

10

1 reference

30 November 2017

Wei Li

11

1 reference

30 November 2017

language of work or name

English

0 references

publication date

29 October 2009

1 reference

Journal of Investigative Dermatology

30 November 2017

published in

1 reference

30 November 2017

volume

130

1 reference

30 November 2017

issue

3

1 reference

30 November 2017

page(s)

716-724

1 reference

The color loci of mice--a genetic century

30 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

[China genetic counseling network (CGCN): a website on genetic counseling and genetic education].

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

A Chinese case of oculocutaneous albinism type 4 with two novel mutations

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Oculocutaneous albinism type 1: the last 100 years

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

A genomewide association study of skin pigmentation in a South Asian population

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Genetics of pigmentary disorders

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Four novel mutations of TYR gene in Chinese OCA1 patients

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Identification of a novel mutation in a Chinese family with X-linked ocular albinism

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Molecular basis of oculocutaneous albinism type 1 in Lebanese patients

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.339

7 January 2021

Identifiers

DOI

10.1038/JID.2009.339

1 reference

Dimensions Publication ID

30 November 2017

1052713292

0 references

1 reference