Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa

Autor:	Isabella Torrente, Claudia Covaciu, Giovanna Floriddia, Daniele Castiglia, Mauro Paradisi, Elisa Pisaneschi, Marco Castori
Rok vydání:	2008
Předmět:	Isodisomy Genetics Lethal Junctional Epidermolysis Bullosa business.industry Mutation (genetic algorithm) Medicine Dermatology business Junctional epidermolysis bullosa (medicine) medicine.disease Molecular Biology Biochemistry Uniparental disomy
Zdroj:	Journal of Dermatological Science. 51:58-61
ISSN:	0923-1811
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::d1a3858ad92902a2ce164d2cae79137e https://doi.org/10.1016/j.jdermsci.2008.02.006 Zobrazit plný text záznamu Full Text from ScienceDirect