Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

PURPOSE: Autosomal dominant spastic paraplegia, type 4 (SPG4), a debilitating disorder of progressive spasticity and weakness of the lower limbs, results from heterozygous mutations in the SPAST gene. The full spectrum of SPAST mutations causing SPG4 and their mechanisms of formation remain to be de...

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Hlavní autoři: Boone, Philip M., Liu, Pengfei, Zhang, Feng, Carvalho, Claudia M. B., Towne, Charles F., Batish, Sat Dev, Lupski, James R.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3407413/
https://ncbi.nlm.nih.gov/pubmed/21659953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e3182106775
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