Identification of a Novel Mutation of Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

Overview

Journal Ann Dermatol

Specialty Dermatology

Date 2017 Apr 11

PMID 28392661

Citations 3

Authors

Nadia Laroussi

Olfa Messaoud

Mariem Chargui

Chaima Ben Fayala

Abdelaziz Elahlafi

Mourad Mokni

Anu Bashamboo

Kenneth McElreavey

Mohamed Samir Boubaker

Houda Yacoub Youssef

Sonia Abdelhak

Affiliations

Soon will be listed here.

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References

Yuen W, Lemmink H, van Dijk-Bos K, Sinke R, Jonkman M . Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. Br J Dermatol. 2011; 165(6):1314-22. DOI: 10.1111/j.1365-2133.2011.10553.x. View

Cheng J, Cho R . Genetics and epigenetics of the skin meet deep sequence. J Invest Dermatol. 2012; 132(3 Pt 2):923-32. PMC: 4099064. DOI: 10.1038/jid.2011.436. View

Krawczak M, Reiss J, Cooper D . The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 1992; 90(1-2):41-54. DOI: 10.1007/BF00210743. View

Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T . Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat Genet. 2012; 44(5):586-92. DOI: 10.1038/ng.2229. View

Masunaga T . Epidermal basement membrane: its molecular organization and blistering disorders. Connect Tissue Res. 2006; 47(2):55-66. DOI: 10.1080/03008200600584157. View