(Q37548448)

English

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

scientific article published on 03 February 2014

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scholarly article

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7 March 2020

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria (English)

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7 March 2020

dyschromatosis universalis hereditaria

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ATP-binding cassette, sub-family B (MDR/TAP), member 6a

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GOA release 2020-03-11

9

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7 March 2020

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7 March 2020

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7 March 2020

author name string

Hong Liu

1

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7 March 2020

Yi Li

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7 March 2020

Ken Kwok Hon Hung

3

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7 March 2020

Na Wang

4

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7 March 2020

Chuan Wang

5

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7 March 2020

Xuechao Chen

6

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7 March 2020

Donglai Sheng

7

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7 March 2020

Xi'an Fu

8

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7 March 2020

Huiqi Low

11

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7 March 2020

Herty Liany

12

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7 March 2020

Ishak Darryl Irwan

13

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7 March 2020

Jian Liu

14

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7 March 2020

Baoqi Yang

15

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7 March 2020

Mingfei Chen

16

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7 March 2020

Yongxiang Yu

17

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7 March 2020

Gongqi Yu

18

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7 March 2020

Guiye Niu

19

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7 March 2020

Jiabao You

20

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7 March 2020

Yan Zhou

21

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7 March 2020

Shanshan Ma

22

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7 March 2020

Ting Wang

23

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7 March 2020

Xiaoxiao Yan

24

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7 March 2020

Boon Kee Goh

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7 March 2020

Birgitte E Lane

27

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7 March 2020

Guizhi Zhou

29

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7 March 2020

Xianmei Lu

30

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7 March 2020

Zhenhua Wang

31

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7 March 2020

Hongqing Tian

32

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7 March 2020

Yuanhua Cao

33

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7 March 2020

Shumin Chen

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7 March 2020

Qiji Liu

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7 March 2020

Furen Zhang

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Jianjun Liu

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3 February 2014

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e87250

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7 March 2020

copyright license

Creative Commons Attribution 4.0 International

3 February 2014

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April 2022 Public Data File from Crossref

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Mutations in ABCB6 cause dyschromatosis universalis hereditaria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3911924

23 August 2017

Small molecule screening identifies targetable zebrafish pigmentation pathways.

1 reference

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23 August 2017

ABCB6 mutations cause ocular coloboma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3911924

23 August 2017

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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23 August 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

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23 August 2017

mc1r Pathway regulation of zebrafish melanosome dispersion

1 reference

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23 August 2017

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

1 reference

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23 August 2017

Function and regulation of human copper-transporting ATPases

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The role of transporters in cellular heme and porphyrin homeostasis

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Identification of a mammalian mitochondrial porphyrin transporter

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23 August 2017

A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.

1 reference

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23 August 2017

Dyschromatosis universalis hereditaria: report of a case and review of the literature

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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The melanosome: membrane dynamics in black and white

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Differential induction of four msx homeobox genes during fin development and regeneration in zebrafish

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The role of ABCG2 and ABCB6 in porphyrin metabolism and cell survival

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12 December 2020

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10.1371/JOURNAL.PONE.0087250

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7 March 2020

2014PLoSO...987250L

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7 March 2020

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7 March 2020

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