Smabf1
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. The transmission pattern of SMABF1 in the families reported by Knierim et al. (2016) was consistent with autosomal recessive inheritance. Molecular Genetics In 5 patients from 3 unrelated families with spinal muscular atrophy with congenital bone fractures, Knierim et al. (2016) identified homozygous or compound heterozygous nonsense mutations ...
Smabf1
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WebbSMABF1; zinc finger, C2HC5-type; ZC2HC5; TRIP-4; thyroid receptor-interacting protein 4; MDCDC; HsT17391; ASC-1; ASC1; activating signal cointegrator 1; TR-interacting protein 4 Data sheet: View or download Webb9 aug. 2016 · In 5 patients from 3 unrelated families with spinal muscular atrophy with congenital bone fractures-1 (SMABF1; 616866), Knierim et al. (2016) identified …
Webb1 maj 1991 · SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1 (OMIM - 616866) Similar Articles . To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation. Webb14 maj 2024 · Spinal muscular atrophy with congenital bone fractures 1, 616866, Autosomal recessive; SMABF1 (TRIP4 gene) (Sequence Analysis-All Coding Exons) …
WebbAffected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). For a discussion of genetic … Webb20 okt. 2016 · thyroid hormone receptor interactor 4. Gene ID: 9325, updated on 5-Aug-2024. Gene type: protein coding. Also known as: ASC1; ASC-1; MDCDC; SMABF1; …
Webbthyroid hormone receptor interactor 4 , ASC-1 , ASC1 , HsT17391 , MDCDC , SMABF1 , ZC2HC5 Cellular Localization Nucleus,Cytoplasm, cytosol Background This gene ...
WebbAntibodies that detect ASC1 can be used in several scientific applications, including Western Blot, Immunohistochemistry, Immunoprecipitation, Immunocytochemistry and … grand cayman rapid covid testWebbTRIP4 has 3,710 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, … chinese american dating appWebb21 mars 2024 · This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, … grand cayman red sea trading companyWebbSMABF1: Name: atrophy, muscular, spinal, with congenital bone fractures, type 1 (SMABF-1) OMIM ID: 616866: Human Phenotype Ontology Project (HPO) HPO: Inheritance: … grand cayman public beachWebbMutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1).,TRIP4,ASC-1,ASC1,HsT17391,MDCDC,SMABF1,ZC2HC5,Epigenetics & Nuclear Signaling,TRIP4 Molecular Weight 66kDa grand cayman real estate listingsWebbThis protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear … chineseamerican designer samWebbAffected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). For a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866). (616867) (Updated 26-Feb-2024) grand cayman public beaches