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Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome
Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease that is characterized by short stature, and fusions of the vertebrae and carpal and tarsal bones. SCT results from homozygosity or compound heterozygosity for nonsense mutations in FLNB. FLNB encodes filamin B, a multifu...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2680151/ https://ncbi.nlm.nih.gov/pubmed/17635842 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddm188 |
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