Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency

Clinical Chemistry

Volumn 61, Issue 2, 2015, Pages 412-419

  Taylor, Jennifer L ^a   Lee, Francis K ^a   Yazdanpanah, Golriz Khadem ^b   Staropoli, John F ^c   Liu, Mei ^c   Carulli, John P ^c   Sun, Chao ^c   Dobrowolski, Steven F ^d   Hannon, W Harry ^b   Vogt, Robert F ^a  

^a CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^b CDC FOUNDATION   (United States)

^c BIOGEN   (United States)

^d UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RIBONUCLEASE; DNA; LYMPHOCYTE ANTIGEN RECEPTOR; SURVIVAL MOTOR NEURON PROTEIN 1;

ARTICLE; CELL CULTURE; DRIED BLOOD SPOT TESTING; GENE AMPLIFICATION; HUMAN; HUMAN CELL; MULTIPLEX POLYMERASE CHAIN REACTION; NEWBORN; NEWBORN SCREENING; REAL TIME POLYMERASE CHAIN REACTION; SEVERE COMBINED IMMUNODEFICIENCY; SPINAL MUSCULAR ATROPHY; UMBILICAL CORD BLOOD; ADOLESCENT; ADULT; BLOOD; CHILD; GENETIC SCREENING; GENETICS; INFANT; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; PRESCHOOL CHILD; PROCEDURES; VALIDATION STUDY; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA; DRIED BLOOD SPOT TESTING; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; REAL-TIME POLYMERASE CHAIN REACTION; RECEPTORS, ANTIGEN, T-CELL; SEVERE COMBINED IMMUNODEFICIENCY; SURVIVAL OF MOTOR NEURON 1 PROTEIN; YOUNG ADULT;

EID: 84921871661     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2014.231019     Document Type: Article

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