DYSF protein, human

Preferred Label : DYSF protein, human;

MeSH note : dysferlin is a skeletal muscle gene mutated in Miyoshi myopathy & limb girdle muscular dystrophy, RefSeq NM_003494;

CISMeF synonym : dysferlin-v1 protein, human;

MeSH synonym : dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) protein, human; dysferlin protein, human;

Is substance : O;

Détails

Origin ID

C114839;

UMLS CUI

C0758256;

MeSH indexing information
- muscular dystrophies [MeSH Descriptor]
MeSH term(s) associated for indexing
- Dysferlin [MeSH Descriptor]
- membrane proteins [MeSH Descriptor]
- muscle proteins [MeSH Descriptor]
Record concept(s)
- DYSF protein, human [MeSH concept]
- dysferlin-v1 protein, human [MeSH concept]
See also (suggested by CISMeF)
- limb-girdle muscular dystrophy, type 2B [MeSH Supplementary Concept]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- Dysferlin [LOINC component]
- Dysferlin [NCIt concept]

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