Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

European Journal of Human Genetics

Volumn 20, Issue 5, 2012, Pages 588-591

  Corcia, Philippe ^a,b   Ingre, Caroline ^d,e   Blasco, Helene ^b,c   Press, Rayomand ^e   Praline, Julien ^a,b   Antar, Catherine ^b,c   Veyrat Durebex, Charlotte ^b,c   Guettard, Yves Olivier ^b   Camu, William ^f   Andersen, Peter M ^d   Vourc'h, Patrick ^b,c   Andres, Christian R ^b,c  

^a UNIVERSITY HOSPITAL OF TOURS   (France)

^b UNIVERSITÉ DE TOURS   (France)

^c CHU BRETONNEAU   (France)

^d UMEÅ UNIVERSITY   (Sweden)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

association studies; SMN1 gene; SMN2 gene; sporadic amyotrophic lateral sclerosis

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE COURSE; DISEASE DURATION; FEMALE; FRANCE; GENE DELETION; GENE FREQUENCY; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; SEX DIFFERENCE; SITE OF ONSET; SWEDEN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; COHORT STUDIES; FEMALE; FRANCE; GENE DELETION; GENE DOSAGE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; SURVIVAL OF MOTOR NEURON 2 PROTEIN; SWEDEN;

EID: 84859911665     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.255     Document Type: Article

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