Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide

Human Mutation

Volumn 25, Issue 2, 2005, Pages 177-188

  Buzin, Carolyn H ^a   Feng, Jinong ^a   Yan, Jin ^a   Scaringe, William ^a   Liu, Qiang ^a   Den Dunnen, Johan ^b   Mendell, Jerry R ^c   Sommer, Steve S ^a  

^a CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

Author keywords

DMD; DOVAM S; Dystrophin; F9; Hotspot; Mutation rate; TP53

Indexed keywords

DYSTROPHIN;

ADOLESCENT; ARTICLE; CHILD; CPG ISLAND; DUCHENNE MUSCULAR DYSTROPHY; GENE DELETION; GENE INSERTION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CPG ISLANDS; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FACTOR IX; GENES; GENES, P53; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; POINT MUTATION; SEQUENCE DELETION; TANDEM REPEAT SEQUENCES;

EID: 13444257350     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20132     Document Type: Article

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