Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

BACKGROUND: Bardet-Biedl syndrome (BBS) is a pleiotropic recessive disorder that belongs to the rapidly growing family of ciliopathies. It shares phenotypic traits with other ciliopathies, such as Alström syndrome (ALMS), nephronophthisis (NPHP) or Joubert syndrome. BBS mutations have been detected...

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Detalhes bibliográficos
Main Authors: Redin, Claire, Le Gras, Stéphanie, Mhamdi, Oussema, Geoffroy, Véronique, Stoetzel, Corinne, Vincent, Marie-Claire, Chiurazzi, Pietro, Lacombe, Didier, Ouertani, Ines, Petit, Florence, Till, Marianne, Verloes, Alain, Jost, Bernard, Chaabouni, Habiba Bouhamed, Dollfus, Helene, Mandel, Jean-Louis, Muller, Jean
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2012
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Methods
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3436454/
https://ncbi.nlm.nih.gov/pubmed/22773737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-100875
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