Autosomal dominant polycystic kidney disease and α−4.2thalassemia in a Caucasian family
✍ Scribed by Marie Claude Vinet; Catherine Dodé; Olivier Pascal; Nicole Monnier; Jacques Rochette; Lucien Bachner
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 306 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0340-6717
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📜 SIMILAR VOLUMES
The results of classical segregation analysis on 159 families with polycystic kidney disease (PKD) are presented. It had been previously estimated that about 95% of autosomal dominant PDK (ADPKD) families have PKD 1, the gene localized to chromosome 16p. The main purpose of the study was to determin
Autosomal dominant polycystic kidney disease (ADPKD) arises from mutations in the PKD1 and PKD2 genes. The Polycystic Kidney Disease Mutation Database (PKDB) is an internet-accessible relational database containing comprehensive information about germline and somatic disease-causing variants within
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