Literature DB >> 20555349

Inversa dystrophic epidermolysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII.

Christine Chiaverini, Alexandra V Charlesworth, Monia Youssef, Jean-François Cuny, Smail H Rabia, Jean-Philippe Lacour, Guerrino Meneguzzi.   

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Year:  2010        PMID： 20555349     DOI： 10.1038/jid.2010.159

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  4 in total

1.  Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.

Authors:  Xavier Vendrell; Rosa Bautista-Llácer; Trinitat Maria Alberola; Elena García-Mengual; Merche Pardo; Antonio Urries; Julián Sánchez
Journal:  J Assist Reprod Genet       Date:  2011-06-24       Impact factor: 3.412

2.  Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa.

Authors:  David T Woodley; Jon Cogan; Daniel Mosallaei; Kaitlyn Yim; Mei Chen
Journal:  J Dermatol Sci       Date:  2021-09-23       Impact factor: 4.563

3.  A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Authors:  Nguyen Thuy Duong; Luong Thi Lan Anh; Nguyen Huu Sau; Nguyen Bao Anh; Noriko Miyake; Nong Van Hai; Naomichi Matsumoto
Journal:  Hum Genome Var       Date:  2022-05-17

Review 4.  Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Authors:  Monica-Cristina Pânzaru; Lavinia Caba; Laura Florea; Elena Emanuela Braha; Eusebiu Vlad Gorduza
Journal:  Diagnostics (Basel)       Date:  2022-05-27
  4 in total

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