Molecular Basis of Kindler Syndrome in Italy: Novel and Recurrent Alu/Alu Recombination, Splice Site, Nonsense, and Frameshift Mutations in the KIND1 Gene-Reference-Cited by-同舟云学术

Molecular Basis of Kindler Syndrome in Italy: Novel and Recurrent Alu/Alu Recombination, Splice Site, Nonsense, and Frameshift Mutations in the KIND1 Gene

Published:2006-08 Issue:8 Volume:126 Page:1776-1783
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Has Cristina,Wessagowit Vesarat,Pascucci Monica,Baer Corinna,Didona Biagio,Wilhelm Christian,Pedicelli Cristina,Locatelli Andrea,Kohlhase Jürgen,Ashton Gabrielle H.S.,Tadini Gianluca,Zambruno Giovanna,Bruckner-Tuderman Leena,McGrath John A.,Castiglia Daniele

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference26 articles.

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3. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome;Ashton;J Invest Dermatol,2004

4. Alu repeats and human genomic diversity;Batzer;Nat Rev Genet,2002

5. A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa;Baudoin;Hum Mol Genet,1994

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