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Mutation detection in the repeated part of the PKD1 gene.
The principle cause of one of the most prevalent genetic disorders, autosomal dominant polycystic kidney disease, involves mutations in the PKD1 gene. However, since its identification in 1994, only 27 mutations have been published. Detection of mutations has been complicated because the greater par...
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| Auteurs principaux: | , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
1997
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1716049/ https://ncbi.nlm.nih.gov/pubmed/9345095 |
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