Determination of SMN1 and SMN2 copy number using TaqMan™ technology

Human Mutation

Volumn 22, Issue 1, 2003, Pages 74-78

  Anhuf, Dirk ^a,b   Eggermann, Thomas ^a   Rudnik Schöneborn, Sabine ^a   Zerres, Klaus ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Heterozygous deletion; MGB probes; SMA; SMN1; SMN2; TaqMan

Indexed keywords

GENOMIC DNA;

ARTICLE; CLINICAL ARTICLE; GENE; GENE DELETION; GENETIC COUNSELING; HETEROZYGOTE DETECTION; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE DIAGNOSIS; SMN1 GENE; SMN2 GENE; WERDNIG HOFFMANN DISEASE;

CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; GENE DELETION; GENE DOSAGE; GENETIC COUNSELING; HETEROZYGOTE DETECTION; HUMANS; MALE; MOLECULAR PROBES; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; TAQ POLYMERASE;

EID: 0038723182     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10221     Document Type: Article

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