Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. [electronic resource]
Producer: 20151228Description: e0117158 p. digitalISSN:- 1932-6203
- Amino Acid Sequence
- Arthrogryposis -- diagnosis
- Asian People
- Carrier Proteins -- genetics
- China
- Cytoskeletal Proteins -- genetics
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Immunoglobulins -- chemistry
- Male
- Microsatellite Repeats
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Protein Interaction Domains and Motifs -- genetics
- Sequence Alignment
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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