Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.

Alías, L; Barceló, M J; Bernal, S; Martínez-Hernández, R; Also-Rallo, E; Vázquez, C; Santana, A; Millán, J M; Baiget, M; Tizzano, E F

Alías, L; Barceló, M J; Bernal, S; Martínez-Hernández, R; Also-Rallo, E; Vázquez, C; Santana, A; Millán, J M; Baiget, M; Tizzano, E F.

Affiliation

Alías L; Servicio de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER (U705), Barcelona, Spain.

Clin Genet ; 85(5): 470-5, 2014 May.

Article in En | MEDLINE | ID: mdl-23799925

Subject(s)

Gene Duplication/genetics; Genetic Carrier Screening; Muscular Atrophy, Spinal/diagnosis; Muscular Atrophy, Spinal/genetics; Survival of Motor Neuron 1 Protein/genetics; Child; Female; Genetic Counseling; Heterozygote; Humans; Male; Muscular Atrophy, Spinal/physiopathology; Mutation; Prenatal Diagnosis

Key words

2/0 carriers; LightCycler quantitative analysis; MLPA; SMA; SMN1 gene; marker analysis

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Gene Duplication / Survival of Motor Neuron 1 Protein / Genetic Carrier Screening Type of study: Diagnostic_studies Limits: Child / Female / Humans / Male Language: En Journal: Clin Genet Year: 2014 Type: Article Affiliation country: Spain

Fulltext

XML

PubMed Links

Search on Google