Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method [2]

Journal of Medical Genetics

Volumn 38, Issue 4, 2001, Pages 240-243

  Saugier Veber, P ^a   Drouot, N ^a   Lefebvre, S ^a   Charbonnier, F ^a   Vial, E ^a   Munnich, A ^a   Frebourg T ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TAQ POLYMERASE;

ANTERIOR HORN CELL DISEASE; DELETION MUTANT; ELECTROPHORESIS; FLUORESCENCE; GENE CONVERSION; GENETIC COUNSELING; HETEROZYGOSITY; LETTER; MOSAICISM; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SPINAL MUSCULAR ATROPHY;

CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FLUORESCENCE; GENE DELETION; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS;

EID: 0035058520     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (24)

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