Genotype–phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216+5G>T in the COL7A1 gene results in aberrant and normal splicings-Reference-Cited by-同舟云学术

Genotype–phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216+5G>T in the COL7A1 gene results in aberrant and normal splicings

Published:2008-05 Issue:2 Volume:50 Page:147-150
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Hamada Takahiro,Fukuda Shunpei,Ishii Norito,Sakaguchi Sachiko,Ishikawa Takako,Abe Toshifumi,Yasumoto Shinichiro,Hashimoto Takashi,Nakano Hajime,Sawamura Daisuke

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference5 articles.

1. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes;Varki;J Med Genet,2007

2. Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa;Sawamura;J Hum Genet,2005

3. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa;Christiano;Hum Mutat,1997

4. Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa;Kon;J Invest Dermatol,1998

5. Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity;Tamai;J Invest Dermatol,1999

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1. Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Testing Mutation Consequences in Dystrophic Epidermolysis Bullosa;International Journal of Molecular Sciences;2021-12-13

2. Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing;Acta Dermato Venereologica;2020

3. A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene;Journal of Dermatological Science;2017-10

4. The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA;Clinical Genetics;2016-02-03

5. Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa;Journal of Dermatological Science;2015-12