Article
A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN - 1 Dec 1993
Somlo S, Rutecki G, Giuffra L A, Reeders S T, Cugino A, Whittier F C
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a disorder of adult onset manifested by bilaterally enlarged cystic kidneys frequently associated with progressive renal failure. The mutated gene (PKD1) responsible for 85 to 95% of cases has been localized to a small segment on the distal...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Base Sequence
- Child
- Child, Preschool
- Chromosomes, Human, Pair 16
- Connective Tissue Diseases
- DNA Primers
- Female
- Genetic Linkage
- Genetic Markers
- Humans
- Male
- Marfan Syndrome
- Middle Aged
- Molecular Sequence Data