## Abstract Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the __SOD1__ gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the __SOD1__ gene results in an amino a
Parental Consanguinity is Associated with a Severe Phenotype in Common Variable Immunodeficiency
✍ Scribed by Claire Rivoisy; Laurence Gérard; David Boutboul; Marion Malphettes; Claire Fieschi; Isabelle Durieu; François Tron; Agathe Masseau; Pierre Bordigoni; Laurent Alric; Julien Haroche; Cyrille Hoarau; Alice Bérézné; Maryvonnick Carmagnat; Gael Mouillot; Eric Oksenhendler; for the DEFI study group
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 206 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0271-9142
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