Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PER heteroduplex analysis of illegitimate transcripts

European Journal of Human Genetics

Volumn 4, Issue 3, 1996, Pages 183-187

  Barbieri, Anna Maria ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

BMD; DMD; Dystrophin; Heteroduplex analysis; Illegitimate transcription; Mutation; Splicing

Indexed keywords

DYSTROPHIN; HETERODUPLEX; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; DUCHENNE MUSCULAR DYSTROPHY; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE;

ALTERNATIVE SPLICING; BASE SEQUENCE; BLOTTING, SOUTHERN; DNA; DYSTROPHIN; EXONS; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; NUCLEIC ACID CONFORMATION; NUCLEIC ACID HETERODUPLEXES; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 0030015988     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472193     Document Type: Article

References (2)

1. Emery AEH: Duchenne muscular dystrophy, ed 2. New York, Oxford University Press, 1988.
2. Koenig M, Monaco AP, Kunkel LM: The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988;53:219-228.