Large-scale population screening for spinal muscular atrophy: Clinical implications

Genetics in Medicine

Volumn 13, Issue 2, 2011, Pages 110-114

  Ben Shachar, Shay ^a   Orr Urtreger, Avi ^a,b   Bardugo, Eyal ^a   Shomrat, Ruth ^a   Yaron, Yuval ^a,b  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

carrier screening; MLPA; SMA; SMN1; spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1;

ARTICLE; COPY NUMBER VARIATION; CYSTIC FIBROSIS; EXON; FEASIBILITY STUDY; FRAGILE X SYNDROME; GENE DELETION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; ISRAEL; MAJOR CLINICAL STUDY; MASS SCREENING; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; PRENATAL DIAGNOSIS; PREVALENCE; SPINAL MUSCULAR ATROPHY;

DNA COPY NUMBER VARIATIONS; EXONS; GENE FREQUENCY; GENETIC TESTING; HETEROZYGOTE; HUMANS; ISRAEL; MUSCULAR ATROPHY, SPINAL; SEQUENCE DELETION; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 79951578660     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3182017c05     Document Type: Article

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