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Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis

✍ Scribed by Michael Koptides; C. Constantinou Deltas


Publisher
Springer
Year
2000
Tongue
English
Weight
143 KB
Volume
107
Category
Article
ISSN
0340-6717

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We evaluated the accuracy of ultrasonographic diagnosis of autosomal dominant polycystic kidney disease (ADPKD) and factors influencing its prognosis in members of 17 Newfoundland families originally described in 1984. In 10 families showing genetic linkage between ADPKD and markers for the PKDl loc

Segregation analysis of autosomal domina
✍ Dr. A. Dobin; W. J. Kimberling; W. Pettinger; J. E. Bailey-Wilson; Y. Y. Shugart πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 785 KB

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