Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

Clinical Genetics

Volumn 72, Issue 6, 2007, Pages 582-592

  Krahn, M ^a   Pecheux C ^a   Chapon, F ^b   Beroud C ^c   Drouin Garraud, V ^d   Laforet, P ^e   Romero, N B ^f   Penisson Besnier, I ^g   Bernard, R ^a   Urtizberea, J A ^h   Leturcq, F ⁱ   Lévy, Nicolas ^a,c  

^a TIMONE HOSPITAL   (France)

^b CHU CÔTE DE NACRE   (France)

^c INSERM   (France)

^d HÔPITAL CHARLES NICOLLE   (France)

^e Institut de Myologie   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g ANGERS UNIVERSITY HOSPITAL   (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ Hôpital Cochin ^*  (France)

Author keywords

Calpain 3; Calpainopathy; CAPN3; Deletion; Intronic variant; LGMD2A; NMD; RT PCR

Indexed keywords

ADENINE; CALPAIN 3; COMPLEMENTARY DNA; GUANINE; MESSENGER RNA; THYMIDINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; HUMAN TISSUE; INTRON; LIMB GIRDLE MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RNA SPLICING;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CALPAIN; DNA PRIMERS; EOSINOPHILIA; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MYOSITIS; RNA SPLICING; RNA STABILITY; RNA, MESSENGER; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 36249006054     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00906.x     Document Type: Article

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