Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry-Reference-Cited by-同舟云学术

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry

Published:2012-01-23 Issue:2 Volume:166 Page:261-265
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

van Tuyll van Serooskerken A.M.,Drögemöller B.I.,te Velde K.,Bladergroen R.S.,Steijlen P.M.,Poblete-Gutiérrez P.,van Geel M.,van Heerden C.J.,Warnich L.,Frank J.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2011.10606.x/fullpdf

Reference20 articles.

1. Porphyrias;Puy;Lancet,2010

2. The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts;Brenner;N Engl J Med,1980

3. The inherited enzymatic defect in porphyria variegata;Deybach;Hum Genet,1981

4. Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria;Meissner;Eur J Clin Invest,1986

5. A p.R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria;Meissner;Nat Genet,1996

Cited by 13 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. Porphyrien – eine Übersicht;Die Dermatologie;2024-06-20

2. Cutaneous Porphyrias;Rook's Textbook of Dermatology;2024-03-19

3. The Cutaneous Porphyrias;European Handbook of Dermatological Treatments;2023

4. The Porphyrias;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2022-03

5. Die Porphyrien;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2022-03