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Three complex alleles of CFTR gene identified in Lebanese, Egyptian and French population and their potential impact on splicing

Archive ouverte | Farhat, Raëd | CCSD

International audience. Cystic Fibrosis (CF) in Arab Mediterranean countries has a different CFTR mutational profile if compared either to Caucasians or in the Arabian Peninsula. The c.3909C>G (N1303K, p.Asn1303Lys)...

N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing

Archive ouverte | Farhat, Raëd | CCSD

International audience. Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasians. It is caused by mutations on the Cystic Fibrosis Transmembrane Conductance Regulator gene ( CFTR ) tha...

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Archive ouverte | Stoetzel, Corinne | CCSD

International audience. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40-50% of the total mutational load. Here we report a major ...

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