Results 181 to 190 of about 4,117 (196)

[Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family].

Zhonghua yi xue za zhi, 2002
To identify gene mutation of a epidermolysis bullosa pruriginosa family.Polymerase chain reaction (PCR), DNA sequencing, multiplex PCR using allele-specific oligonucleotide primers.A G6100A transition of COL7A1 was found in patients, resulting in G2034R substitution in type VII collagen.
X, Chen, G, Li, X, Zhu
openaire   +1 more source

5′RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa

International Journal of Molecular Sciences, 2022
Eva M Murauer, Stefan Hainzl, Christina Gruber   +2 more
exaly  

Mutation analysis of the COL7A1 gene in a family with Bart syndrome

Chinese Journal of Dermatology, 2022
openaire   +1 more source

272 Unraveling the mutational landscape of COL7A1 in Germany

Journal of Investigative Dermatology
J Zandanell, C Has
openaire   +1 more source

The COL7A1 mutation database†

Human Mutation, 2012
Anna Kutkowska-Kazmierczak, Jerzy Bal, Grzegorz Swięćkowski   +2 more
exaly  

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

Experimental Dermatology, 2008

exaly  

What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a COL7A1 mutation as the underlying cause

Journal of Dermatology, 2020
Rui Yang, Weiwei Li, Hong Sang
exaly  

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation

British Journal of Dermatology, 2010
Sara Llames, Angela Hernandez-Martin, Alvaro Meana   +2 more
exaly  

Mild Expression of COL7A1-Associated Epidermolysis Bullosa in a Mother and Child

Neonatology Today, 2022
openaire   +1 more source

Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa

Journal of Dermatology, 2011
Hajime Nakano, Hiroshi Koga, Takashi Hashimoto   +2 more
exaly