Sökning: "50 bp deletion in SOD1 promotor"

Hittade 1 avhandling innehållade orden 50 bp deletion in SOD1 promotor.

  1. 1. On the aetiology of ALS a comprehensive genetic study

    Författare :Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

    Sammanfattning : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. LÄS MER