Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech Patients with duchenne and becker muscular dystrophy (statistical comparison with results from several other countries)

Folia Biologica

Volumn 47, Issue 3, 2001, Pages 81-87

  Hrdlicka I ^a   Zadina, J ^a   Krejci R ^a   Srbova A ^a   Kucerova M ^a  

^a FAKULTNÍ THOMAYEROVA NEMOCNICE   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; BULGARIA; CONTROLLED STUDY; CZECH REPUBLIC; DNA DETERMINATION; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DRIFT; HUMAN; HUNGARY; INDIA; INTRON; ITALY; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PROMOTER REGION; STATISTICAL ANALYSIS; THEORY; TURKEY (REPUBLIC);

EID: 0034985854     PISSN: 00155500     EISSN: 25337602     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

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5. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
6. Multiplex PCR for the diagnosis of Ducheme muscular dystrophy
7. Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes
8. Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR
9. Patterns of deletions of the dystrophin gene in different European populations
10. Deletion patterns of Duchenne and Becker muscular dystrophies in Greece
11. The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
12. Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies
13. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
14. A simple salting out procedure for extracting DNA from human nucleated cells
15. Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians
16. Spectrum of small mutations in the dystrophin coding region
17. Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to Duchenne muscular dystrophy carrier testing
18. Exon structure of the human dystrophin gene
19. Protein truncation test (PTT) for rapid detection of translation-terminating mutations
20. Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients
21. Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron
22. Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients