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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Group
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3436454/ https://www.ncbi.nlm.nih.gov/pubmed/22773737 http://dx.doi.org/10.1136/jmedgenet-2012-100875 |
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