Webb2 jan. 2024 · Skeletal muscle biopsy showed muscle fiber immaturity, fiber size variation, and atrophic fibers, suggestive of spinal muscular atrophy. Sural nerve biopsy of 2 … WebbSMABF1 (atrophy, muscular, spinal, with congenital bone fractures, type 1 (SMABF-1)) HGMD: TRIP4: GeneCards: TRIP4: GeneTests: TRIP4: Orphanet: TRIP4: Active transcripts. Legend Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still.
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WebbContact Creative Biolabs to Customize TRIP4 Antibody, which reacts with Chimpanzee (Pan troglodytes). This product is a mouse antibody against TRIP4. It can be used for TRIP4 detection in Western Blot, Enzyme-Linked Immunosorbent Assay. WebbAntibodies that detect ASC1 can be used in several scientific applications, including Western Blot, Immunohistochemistry, Immunoprecipitation, Immunocytochemistry and … diamond mine next to city
Spinal Muscular Atrophy with Congenital Bone Fractures 2
WebbSMABF1: Name: atrophy, muscular, spinal, with congenital bone fractures, type 1 (SMABF-1) OMIM ID: 616866: Human Phenotype Ontology Project (HPO) HPO: Inheritance: … WebbSMABF1: Name: atrophy, muscular, spinal, with congenital bone fractures, type 1 (SMABF-1) OMIM ID: 616866: Human Phenotype Ontology Project (HPO) HPO: Inheritance: Autosomal recessive: Individuals reported having this disease: 2: Phenotype entries for this disease: 0: Associated with 1 gene: TRIP4: Associated tissues- WebbMutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016] TRIP4 (thyroid hormone receptor interactor 4) - Rat Genome Database diamond mine locations in usa