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Allelic disorders caused by mutations in TRPV4
Allelic disorders caused by mutations in TRPV4
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机译:由TRPV4突变引起的等位基因疾病
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摘要
The present invention provides methods, kits, and compositions for detecting mutations in transient receptor potential cation channel, subfamily V, member 4 (TRPV4). In particular, mutations are detected in TRPV4 to detect diseases such as scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC) or Charcot-Marie-Tooth disease type 2C (CMT2C).
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