Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes-Reference-Cited by-同舟云学术

Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes

Published:2013-05-15 Issue:6 Volume:53 Page:692-698
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:

Author:

Akoglu Gulsen¹,Li Qiaoli²,Gokoz Ozay³,Gazyagci Ali Serhan⁴,Uitto Jouni²

Affiliation:

1. Dermatology Clinic; Ankara Halil Sivgin Cubuk State Hospital; Ankara Turkey

2. Department of Dermatology and Cutaneous Biology; Jefferson Medical College; Philadelphia PA USA

3. Department of Pathology; Hacettepe University Faculty of Medicine; Ankara Turkey

4. Ophthalmology Clinic; Ankara Halil Sivgin Cubuk State Hospital; Ankara Turkey

Publisher

Wiley

Subject

Dermatology

Reference24 articles.

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2. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms;Uitto;J Invest Dermatol,2010

3. Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment: summary of the 2010 PXE International Research Meeting;Uitto;Am J Med Genet A,2011

4. Mutations in ABCC6 cause pseudoxanthoma elasticum;Bergen;Nat Genet,2000

5. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter;Ringpfeil;Proc Natl Acad Sci USA,2000

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