Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome. Few cases have been described to date in LGMD2H/STM, but this gene is not systematically analysed because of the absence of specific signs and difficulties...

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Veröffentlicht in:	European journal of human genetics : EJHG 2015-07, Vol.23 (7), p.929-934
Hauptverfasser:	Nectoux, Juliette, de Cid, Rafael, Baulande, Sylvain, Leturcq, France, Urtizberea, Jon Andoni, Penisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Roudaut, Carinne, Criqui, Audrey, Orhant, Lucie, Peyroulan, Delphine, Ben Yaou, Raba, Nelson, Isabelle, Cobo, Anna Maria, Arné-Bes, Marie-Christine, Uro-Coste, Emmanuelle, Nitschke, Patrick, Claustres, Mireille, Bonne, Gisèle, Lévy, Nicolas, Chelly, Jamel, Richard, Isabelle, Cossée, Mireille
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Apoptosis Autism Bardet-Biedl syndrome Base Sequence Biochemistry, Molecular Biology Clonal deletion Cognitive ability Comparative Genomic Hybridization - methods Congenital diseases DNA Mutational Analysis - methods Dystrophy Family Health Female Gene Deletion Genes Genetics Genomics High-Throughput Nucleotide Sequencing - methods Humans Kinases Life Sciences Male Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - pathology Muscular dystrophy Mutation Neuromuscular diseases Patients Pedigree Phenotypes Proteins Schizophrenia Short term memory Stem cells Transcription Factors - genetics Tripartite Motif Proteins Ubiquitin-Protein Ligases
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