Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling

Clinical Chemistry

Volumn 58, Issue 6, 2012, Pages 1033-1039

  Dobrowolski, Steven F ^a   Pham, Ha T ^b   Downes, Frances Pouch ^c   Prior, Thomas W ^d   Naylor, Edwin W ^e   Swoboda, Kathy J ^f  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b ARUP LABORATORIES   (United States)

^c MICHIGAN DEPARTMENT OF COMMUNITY HEALTH   (United States)

^d OHIO STATE UNIVERSITY   (United States)

^e BioChem Genetics LLC   (United States)

^f UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ARTICLE; ASYMPTOMATIC DISEASE; CALIBRATED SHORT AMPLICON MELT PROFILING; DIAGNOSTIC VALUE; DNA FINGERPRINTING; DNA SCREENING; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENOTYPE; GENOTYPING TECHNIQUE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; RELIABILITY; SEQUENCE HOMOLOGY; SPINAL MUSCULAR ATROPHY;

EXONS; GENE DELETION; GENE DOSAGE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84861657244     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2012.183038     Document Type: Article

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