Carrier screening for spinal muscular atrophy in Italian population

J Genet. 2014 Apr;93(1):179-81. doi: 10.1007/s12041-014-0323-x.

Authors

Francesco Calì¹, Giuseppa Ruggeri, Valeria Chiavetta, Carmela Scuderi, Sebastiano Bianca, Chiara Barone, Alda Ragalmuto, Pietro Schinocca, Girolamo Aurelio Vitello, Valentino Romano, Sebastiano Musumeci

Affiliation

¹ Laboratorio di Genetica Molecolare, UOC di Genetica Medica, Associazione Oasi Maria SS. (I.R.C.C.S.), 94018 Troina (EN), Italy. cali@oasi.en.it.

PMID: 24840836
DOI: 10.1007/s12041-014-0323-x

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Exons
Gene Dosage
Gene Frequency
Genetic Testing*
Heterozygote*
Humans
Italy
Muscular Atrophy, Spinal / diagnosis*
Muscular Atrophy, Spinal / epidemiology
Muscular Atrophy, Spinal / genetics*
Prevalence
Survival of Motor Neuron 1 Protein / genetics

Substances

Survival of Motor Neuron 1 Protein