A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

Proceedings of the National Academy of Sciences of the United States of America

Volumn 96, Issue 11, 1999, Pages 6307-6311

  Lorson, Christian L ^a   Hahnen, Eric ^b   Androphy, Elliot J ^a   Wirth, Brunhilde ^b  

^a TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; SURVIVAL MOTOR NEURON PROTEIN; UNCLASSIFIED DRUG;

ALLELISM; ALTERNATIVE RNA SPLICING; ARTICLE; CELL SURVIVAL; CONTROLLED STUDY; GENE EXPRESSION REGULATION; GENETIC RISK; HUMAN; HUMAN CELL; MOLECULAR GENETICS; OLIGOMERIZATION; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TRANSCRIPTION REGULATION;

ALLELES; ALTERNATIVE SPLICING; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; EXONS; FIBROBLASTS; HOMOZYGOTE; HUMANS; LYMPHOCYTES; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; POINT MUTATION; PROTEIN BIOSYNTHESIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; TRANSCRIPTION, GENETIC;

EID: 0033033434     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.96.11.6307     Document Type: Article

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