Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling | Zendy

Steven F. Dobrowolski | Zendy; Hà Phạm | Zendy; Frances P. Downes | Zendy; Thomas W. Prior | Zendy; Edwin W. Naylor | Zendy; Kathryn J. Swoboda | Zendy

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Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling

Author(s) -

Steven F. Dobrowolski,

Hà Phạm,

Frances P. Downes,

Thomas W. Prior,

Edwin W. Naylor,

Kathryn J. Swoboda

Publication year - 2012

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2012.183038

Subject(s) - spinal muscular atrophy , medicine , profiling (computer programming) , amplicon , atrophy , pathology , biology , computer science , genetics , disease , polymerase chain reaction , gene , operating system

The management options for the autosomal recessive neurodegenerative disorder spinal muscular atrophy (SMA) are evolving; however, their efficacy may require presymptom diagnosis and continuous treatment. To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to identify the homozygous deletions of the SMN1 (survival of motor neuron 1, telomeric) gene observed in 95%-98% of affected patients.

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