Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals-Reference-Cited by-同舟云学术

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Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals

Published:2009-06 Issue:3 Volume:54 Page:198-204
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Ramsay Michèle,Greenberg Tarryn,Lombard Zane,Labrum Robyn,Lubbe Steven,Aron Shaun,Marais Anna-Susan,Terry Sharon,Bercovitch Lionel,Viljoen Denis

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference38 articles.

1. Heritable skin diseases with molecular defects in collagen or elastin;Uitto;Dermatol Clin,1987

2. Pseudoxanthoma elasticum 2004;Bercovitch;J Am Acad Dermatol,2004

3. Novel ABCC6 mutations in pseudoxanthoma elasticum;Chassaing;J Invest Dermatol,2004

4. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1;Struk;Hum Mol Genet,1997

5. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1;van Soest;Genome Res,1997

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. ‘The Reconfirmation of the Same’: On Recent Genetic Studies of the Afrikaner Population;The Politics of Knowledge in the Biomedical Sciences;2023

2. ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database;Human Mutation;2022-10-08

3. Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder;Journal of Investigative Dermatology;2021-05

4. Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc;Genetics in Medicine;2021-01

5. From membrane to mineralization: the curious case of the ABCC6 transporter;FEBS Letters;2020-11-21

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