✦ LIBER ✦

Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4

✍ Scribed by Klaus Zerres; Gabi Mücher; Sabine Rudnik-Schöneborn

Publisher: Springer
Year: 1994
Tongue: English
Weight: 166 KB
Volume: 93
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00201574

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations for the autosomal recessive an

Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic

✍ Michèle Ramsay; Stephen T. Reeders; Peter D. Thomson; Lawrence S. Milner; L. Laz 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 278 KB

The autosomal dominant form of polycystic kidney disease (ADPKD) has been linked to the alpha-globin gene locus on 16p. Linkage studies between the autosomal recessive type (ARPKD) and the 3' HVR of the alpha-globin gene cluster showed that the ARPKD and ADPKD are not allelic.

Genetic linkage studies of autosomal dom

Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family

✍ Shrawan Kumar; William J. Kimberling; Patricia A. Gabow; Judy B. Kenyon 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 410 KB

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

Syndrome of autosomal recessive polycyst

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p

✍ Hallermann, C.; M�cher, G.; Kohlschmidt, N.; Wellek, B.; Schumacher, R.; Bahlman 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 1 views

We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511-518]. Both propositi had polycystic kidneys and hepatic fibrosis indistinguishable from that