Novel nonsense mutation (C->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Melis, Maria Antonietta ^a   Muntoni, Francesco ^b   Cau, Milena ^a   Loi, Daniela ^a   Puddu, Alberto ^a   Boccone, Loredana ^a   Mateddu, Anna ^a   Cianchetti, Carlo ^a   Cao, Antonio ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; COMPLEMENTARY DNA; DYSTROPHIN; SERINE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; EXON; GENETIC LINKAGE; HUMAN; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; CHEMISTRY; FAMILY HEALTH; GENETICS; MALE; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; STOP CODON;

CHILD, PRESCHOOL; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DYSTROPHIN; EXONS; FAMILY HEALTH; HUMANS; MALE; MUSCULAR DYSTROPHIES; POINT MUTATION; SERINE;

EID: 0031975894     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110146     Document Type: Article

References (8)

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2. Chamberlain JS, Gibbs RA, Rainer JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16:11141-11156.
3. Covone AE, Caroli F, Romeo G (1992) Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three multiplex PCR. Am J Hum Genet 51:675-677.
4. Dietz HC, Valle D, Francomano CA, Kenzior RJ, Pyeritz RE, Cutting GR (1993) Skipping of constitutive exons in vivo induced by nonsense mutations. Science 259:680-683.
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8. Tuffery S, Lenk U, Roberts RG, Coubes C, Demaille J, Claustres M (1995) Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat 6: 126-135.