Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations

Objective: To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum. Methods: Mutations were detected by different methods including SSCP analyses as a screening technique on the basis of genomic or cDNA, f...

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Detaylı Bibliyografya
Asıl Yazarlar: Rosewich, H, Ohlenbusch, A, Gartner, J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2005
Konular:
Online Mutation Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736134/
https://ncbi.nlm.nih.gov/pubmed/16141001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033324
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