The molecular basis of Spinal Muscular Atrophy (SMA) in South African black patients

Neuromuscular Disorders

Volumn 17, Issue 9-10, 2007, Pages 684-692

  Labrum, R ^a,b   Rodda, J ^a,b   Krause, A ^a,b  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^b UNIVERSITY OF THE WITWATERSRAND   (South Africa)

Author keywords

Deletion heterozygote; Dosage assay; SMA; South African black population

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 5Q; GENE DUPLICATION; GENE FREQUENCY; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MUSCLE ATROPHY; MUSCLE WEAKNESS; PRIORITY JOURNAL; SOUTH AFRICA; SPINAL CORD VENTRAL HORN; SPINAL MUSCULAR ATROPHY;

AFRICAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, PAIR 5; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; FAMILY LEAVE; FEMALE; GENE DOSAGE; GENE FREQUENCY; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS; SOUTH AFRICA;

EID: 34548419286     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.05.005     Document Type: Article

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