PETALS: Proteomic Evaluation and Topological Analysis of a mutated Locus' Signaling
โ Scribed by Gurkan Bebek; Vishal Patel; Mark R Chance
- Book ID
- 114999341
- Publisher
- BioMed Central
- Year
- 2010
- Tongue
- English
- Weight
- 698 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1471-2105
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๐ SIMILAR VOLUMES
Bardet-Biedl syndrome (BBS) is a heterogeneous disease; to date seven loci have been mapped and five identified (BBS1, BBS2, BBS4, BBS6, and BBS7). Inheritance in some families is complex with multiallelic participation making linkage analysis difficult. Previous mutation screens have been carried o
Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare autosomal recessive inherited neuromuscular disorders. As a step towards a better understanding of the D