Identification of a novel missense mutation of the SMNT gene in two siblings with spinal muscular atrophy

Neurogenetics

Volumn 1, Issue 4, 1998, Pages 273-276

  Wang, Ching H ^a,b   Papendick, Brett D ^a   Bruinsma, Paul ^a   Day, J Kevin ^a  

^a UNIVERSITY OF MISSOURI   (United States)

^b University of Missouri   (United States)

Author keywords

Missense mutation; SMN gene; Spinal muscular atrophy

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; NERVE PROTEIN; RNA BINDING PROTEIN; SMN PROTEIN (SPINAL MUSCULAR ATROPHY);

AMINO ACID SUBSTITUTION; ARTICLE; EXON; FEMALE; GENETICS; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR FAMILY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY; TELOMERE;

AMINO ACID SUBSTITUTION; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NUCLEAR FAMILY; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA-BINDING PROTEINS; TELOMERE;

EID: 0032129444     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050040     Document Type: Article

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