A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families
โ Scribed by Alan F. Wright; Peter W. Teague; Susan E. Pound; Patricia M. Pignatelli; Anne M. Macnicol; Andrew D. Carothers; Rhona J. Mey; Paul L. Allan; Michael L. Watson
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 276 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0340-6717
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Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred
We describe a large three generation family with autosomal dominant polycystic kidney disease (PKD). Ultrasonographic screening of 60 family members revealed 20 individuals, whose age ranged from ten to eighty years, with one or several cysts in only one kidney and 7 individuals with cysts in both k