Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Graninger, W; Wintersberger, W; Meron, G; Smolen, J; Toifl, K; Vormittag, W.
Molecular biology in diagnosis and detection of deletion in Duchenne muscular dystrophy
Wien Klin Wochenschr. 1991; 103(7): 207-209.
Web of Science
PubMed
- Führende Autor*innen der Med Uni Graz
- Graninger Winfried
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- Abstract:
- For the purpose of carrier identification and genetic counselling we investigated deletions of the Duchenne muscular dystrophy (DMD) gene in three families of patients with Duchenne muscular dystrophy. Using a limited number of probes of the DMD cDNA in Southern blots, we detected a deletion in only one patient. Additional methodology is necessary to warrant reliable identification of carriers and exact prenatal diagnosis.
- Find related publications in this database (using NLM MeSH Indexing)
- Child -
- Child, Preschool -
- Chromosome Deletion -
- DNA Probes -
- Heterozygote Detection -
- Humans -
- Male -
- Muscular Dystrophies - diagnosis
- Pedigree - diagnosis
- Sex Chromosome Aberrations - diagnosis
- X Chromosome - diagnosis
- Find related publications in this database (Keywords)
- DUCHENNE MUSCULAR DYSTROPHY
- CARRIER IDENTIFICATION
- GENE DELETION
- GENOME ANALYSIS