Analysis of the C9orf72 gene in spinal muscular atrophy patients

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 15, Issue 7-8, 2014, Pages 563-568

  Alías, Laura ^a,b   Bernal, Sara ^a   Barceló, Maria J ^a,b   Martínez Hernández, Rebeca ^a,c   Martínez, Elisabeth ^a   Baiget, Montserrat ^a,b   Tizzano, Eduardo F ^a,b,d  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c BIOMEDICAL RESEARCH INSTITUTE SANT PAU IIB SANT PAU   (Spain)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Amyotrophic lateral sclerosis; Chromosome 9 open reading frame 72 gene (C9orf72); Repeat primed PCR; Spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 2; C9ORF72 PROTEIN, HUMAN; PROTEIN; SMN1 PROTEIN, HUMAN; SMN2 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 1;

ALLELE; ARTICLE; CHROMOSOME; CONTROLLED STUDY; ELECTROPHORESIS; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE REPEAT; OPEN READING FRAME; PHENOTYPE; POLYMERASE CHAIN REACTION; REPEAT PRIMED POLYMERASE CHAIN REACTION; SIBLING; SOUTHERN BLOTTING; SPINAL MUSCULAR ATROPHY; AMYOTROPHIC LATERAL SCLEROSIS; CHI SQUARE DISTRIBUTION; FEMALE; GENE FREQUENCY; GENETICS; GENOTYPE; MALE;

AMYOTROPHIC LATERAL SCLEROSIS; CHI-SQUARE DISTRIBUTION; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; PROTEINS; REPETITIVE SEQUENCES, NUCLEIC ACID; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84914707184     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2014.929148     Document Type: Article

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