Carrier screening for spinal muscular atrophy in Italian population

Journal of Genetics

Volumn 93, Issue 1, 2014, Pages 179-181

  Calì, Francesco ^a   Ruggeri, Giuseppa ^a   Chiavetta, Valeria ^a   Scuderi, Carmela ^a   Bianca, Sebastiano ^b   Barone, Chiara ^b   Ragalmuto, Alda ^a   Schinocca, Pietro ^a   Vitello, Girolamo Aurelio ^a   Romano, Valentino ^a,c   Musumeci, Sebastiano ^a  

^a OASI RESEARCH INSTITUTE IRCCS   (Italy)

^b ARNAS Garibaldi Nesima Hospital   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

Author keywords

carrier screening; MLPA; spinal muscular atrophy; survival motor neuron gene (SMN1)

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1;

EXON; GENE DOSAGE; GENE FREQUENCY; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HUMAN; ITALY; MUSCULAR ATROPHY, SPINAL; PREVALENCE;

EXONS; GENE DOSAGE; GENE FREQUENCY; GENETIC TESTING; HETEROZYGOTE; HUMANS; ITALY; MUSCULAR ATROPHY, SPINAL; PREVALENCE; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 84903200821     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-014-0323-x     Document Type: Article

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