Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

European Journal of Human Genetics

Volumn 6, Issue 5, 1998, Pages 467-474

  Taylor, Joanne E ^a,d   Thomas, Neil H ^b   Lewis, Cathryn M ^a   Abbs, Stephen J ^a   Rodrigues, Nanda R ^c   Davies, Kay E ^c   Mathew, Christopher G ^a,e  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d CHURCHILL HOSPITAL   (United Kingdom)

^e GUY S HOSPITAL   (United Kingdom)

Author keywords

Gene dosage; Spinal muscular atrophy; Survival motor neuron genes

Indexed keywords

NEURONAL APOPTOSIS INHIBITORY PROTEIN; PROTEIN; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CENTROMERE; CHILD; DISEASE SEVERITY; FLUOROMETRY; GENE; GENE CONVERSION; GENE DELETION; GENE DOSAGE; GENOTYPE; HEREDITARY SPINAL MUSCULAR ATROPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; MAJOR CLINICAL STUDY; MOTONEURON; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; SURVIVAL TIME; TELOMERE;

EID: 0031734722     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200210     Document Type: Article

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