Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an appro...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Lee, John Y.W., Hsu, Chao-Kai, Michael, Magdalene, Nanda, Arti, Liu, Lu, McMillan, James R., Pourreyron, Celine, Takeichi, Takuya, Tolar, Jakub, Reid, Evan, Hayday, Thomas, Blumen, Sergiu C., Abu-Mouch, Saif, Straussberg, Rachel, Basel-Vanagaite, Lina, Barhum, Yael, Zouabi, Yasmin, Al-Ajmi, Hejab, Huang, Hsin-Yu, Lin, Ting-Chien, Akiyama, Masashi, Lee, Julia Y.Y., McLean, W.H. Irwin, Simpson, Michael A., Parsons, Maddy, McGrath, John A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5294675/
https://ncbi.nlm.nih.gov/pubmed/28157540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.01.014
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