G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene

Mutation Research - Mutation Research Genomics

Volumn 382, Issue 1-2, 1997, Pages 67-74

  Bespalova, Irina N ^a,b   Pranzatelli, Michael ^d   Burmeister, Margit ^a,b,c  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d National Pediatric Myoclonus Center   (United States)

Author keywords

Cystatin B; Exon skipping; RNA splicing; Transversion

Indexed keywords

CYSTATIN B; CYTOSINE; GUANINE; MESSENGER RNA; PROTEINASE INHIBITOR; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; LYMPHOBLASTOID CELL LINE; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL;

CELL LINE; CYSTATINS; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; EXONS; GENES; HETEROZYGOTE; HUMANS; LYMPHOCYTES; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER;

EID: 0031224914     PISSN: 13835726     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5726(97)00010-1     Document Type: Article

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