High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

Clinical Genetics

Volumn 81, Issue 2, 2012, Pages 172-178

  Orru S ^a   Manolakos, E ^a,b   Orru N ^a   Kokotas, H ^c   Mascia, V ^a   Carcassi, C ^a,d   Petersen, Mb ^c  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b BIOIATRIKI HEALTHCARE GROUP   (Greece)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^d Binaghi Hospital   (Italy)

Author keywords

Amyotrophic lateral sclerosis; Founder effect; Haplotype; Microsatellite marker; P.Ala382Thr; Sardinia; TARDBP

Indexed keywords

SUPEROXIDE DISMUTASE; THREONINE;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; COHORT ANALYSIS; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PRIORITY JOURNAL;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; DNA-BINDING PROTEINS; FEMALE; FOUNDER EFFECT; GENETIC LOCI; HAPLOTYPES; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION RATE; MUTATION, MISSENSE; PENETRANCE; SEX FACTORS;

EID: 80052702208     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01668.x     Document Type: Article

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