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Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of disorders characterized by progressive spasticity and weakness of the lower limbs. Autosomal dominant and ‘pure' forms of HSP account for ∼80% of cases in Western societies of whom 10% carry atlastin-1 (ATL1) gene mutations...

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Autors principals: Khan, Tahir Naeem, Klar, Joakim, Tariq, Muhammad, Anjum Baig, Shehla, Malik, Naveed Altaf, Yousaf, Raja, Baig, Shahid Mahmood, Dahl, Niklas
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4169543/
https://ncbi.nlm.nih.gov/pubmed/24473461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.5
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