Clinical and molecular diagnosis of spinal muscular atrophy

Neurology India

Volumn 50, Issue 2, 2002, Pages 117-122

  Panigrahi, I ^a   Kesari, A ^a   Phadke, S R ^a   Mittal, B ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Carrier analysis; SMA variants; SMN gene; Spinal muscular atrophy

Indexed keywords

BUTYRIC ACID; DNA;

CHROMOSOME 5Q; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DISEASE CARRIER; DISEASE CLASSIFICATION; DNA DETERMINATION; DRUG EFFICACY; DRUG SAFETY; FAMILY COUNSELING; FRAMESHIFT MUTATION; GENE DELETION; GENETIC COUNSELING; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MOLECULAR BIOLOGY; MUSCLE WEAKNESS; NONHUMAN; PRENATAL DIAGNOSIS; RECURRENT DISEASE; REVIEW; SPINAL MUSCULAR ATROPHY; TELOMERE;

GENETIC TECHNIQUES; HETEROZYGOTE DETECTION; HUMANS; PRENATAL DIAGNOSIS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 0036331904     PISSN: 00283886     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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