Carrier frequency of spinal muscular atrophy

The Lancet

Volumn 372, Issue 9649, 2008, Pages 1542-

  Wilson, Robert B ^a   Ogino, Shuji ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHROGRYPOSIS; BIRTH; CLINICAL FEATURE; HUMAN; LETTER; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; GENETICS; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOTE; NEWBORN; NOTE;

HETEROZYGOTE; HUMANS; INFANT, NEWBORN; PREVALENCE; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 54949144695     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(08)61645-1     Document Type: Letter

References (3)

1. Lunn M.R., and Wang C.H. Spinal muscular atrophy. Lancet 371 (2008) 2120-2133
2. Ogino S., Leonard D.G., Rennert H., Ewens W.J., and Wilson R.B. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet 110 (2002) 301-307
3. Ogino S., Wilson R.B., and Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet 12 (2004) 1015-1023