SMA carrier testing - Validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

European Journal of Human Genetics

Volumn 8, Issue 2, 2000, Pages 79-86

  Scheffer, Hans ^a   Cobben, Jan Maarten ^b   Mensink, Rob G J ^b   Stulp, Rein P ^b   Van Der Steege, Gerrit ^b   Buys, Charles H C M ^b  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b NONE

Author keywords

Carrier testing; SMA; SMN; Spinal muscular atrophy; Survival motor neuron

Indexed keywords

FLUORESCENT DYE; RETINOBLASTOMA PROTEIN;

ARTICLE; AUTOANALYZER; CONTROLLED STUDY; DELETION MUTANT; EXON; HEMIZYGOSITY; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MOTONEURON; PLASMID; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE DIAGNOSIS; RESTRICTION SITE; SEQUENCE ANALYSIS; STANDARD; TUMOR SUPPRESSOR GENE;

CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PEDIGREE; RNA-BINDING PROTEINS; SEQUENCE DELETION;

EID: 0034026614     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200404     Document Type: Article

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