Literature DB >> 18207370

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.

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

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Year:  2008        PMID： 18207370     DOI： 10.1016/j.jdermsci.2007.12.005

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  3 in total

1.  Type VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient.

Authors:  Jae-We Cho; Hajime Nakano; Kyu-Suk Lee
Journal:  J Korean Med Sci       Date:  2009-04-20       Impact factor: 2.153

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

Authors:  Syed Ashraf Uddin; Nicole Cesarato; Aytaj Humbatova; Axel Schmidt; Fazal urRehman; Muhammad Naeem; Abdul Samad Tareen; Sabrina Wolf; Muhammad Anwar Panezai; Holger Thiele; Abdul Wali; Regina Fölster-Holst; Sulman Basit; Muhammad Ayub; Regina C Betz
Journal:  Acta Derm Venereol       Date:  2020-09-30       Impact factor: 3.875

3.  Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Testing Mutation Consequences in Dystrophic Epidermolysis Bullosa.

Authors:  Eijiro Akasaka; Hajime Nakano; Daisuke Sawamura
Journal:  Int J Mol Sci       Date:  2021-12-13       Impact factor: 5.923
  3 in total

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