An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

Human Mutation

Volumn 15, Issue 3, 2000, Pages 228-237

  Wirth, Brunhilde ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Mutation spectrum; SMA; SMN1; SMN2; Spinal muscular atrophy; Survival motor neuron genes

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; DNA POLYMORPHISM; GENE CONVERSION; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MOTONEURON; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SPINAL MUSCULAR ATROPHY;

AMINO ACID SEQUENCE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; GENES, RECESSIVE; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS;

EID: 0034007548     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9     Document Type: Review

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