Spinal muscular atrophy carrier srceening by multiplex polymerase chain reaction using dried blood spot on filter paper

Annals of Human Genetics

Volumn 69, Issue 2, 2005, Pages 216-221

  Majumdar, Ramanath ^a,b   Rehana, Z ^a   Al Jumah, M ^a   Fetaini, N ^a  

^a KING FAHAD NATIONAL GUARD HOSPITAL   (Saudi Arabia)

^b MAYO CLINIC   (United States)

Author keywords

Carrier detection; DNA extraction; IsoCode paper; SMN gene; Spinal muscular atrophy

Indexed keywords

BRCA1 PROTEIN; DNA; PROTEIN MLH1; SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

ANTERIOR HORN CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; CENTROMERE; CHROMOSOME 5Q; CLINICAL PROTOCOL; CONTROLLED STUDY; DNA EXTRACTION; DNA ISOLATION; DNA TEMPLATE; FILTER; GENE DELETION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MULTIPLEX POLYMERASE CHAIN REACTION; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; NERVE CELL DEGENERATION; PARALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROCESS OPTIMIZATION; SENSITIVITY AND SPECIFICITY; SPINAL MUSCULAR ATROPHY; TELOMERE;

EID: 14944374529     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.2004.00149.x     Document Type: Article

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