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Autosomal recessive polycystic kidney disease: Mapping to chromosomal region of 6p21 - cen in a turkish child

  • Nesrin Beşbaş
  • , Seza Özen
  • , Ümit Saatçi
  • , Melda Çaǧlar
  • , Gabi Mucher
  • , Klaus Zerres
  • Hacettepe University
  • University of Bonn
  • Inst. Humangenetik der Universiat

Research output: Contribution to journalArticlepeer-review

Abstract

Autosomal recessive polycystic kidney disease (ARPCD) Is a congenital kidney disease with severe prognosis. We present a male Infant who was diagnosed prenatally by ultrasonography. He died at two months of age In a septic stage. The genetic defect for ARPCD has been mapped to chromosomal region of 6p21-cen. This represents the first study from this region of the world. The linkage studies up to this date fail to show genetic heterogeneity.

Original languageEnglish
Pages (from-to)245-247
Number of pages3
JournalTurkish Journal of Pediatrics
Volume40
Issue number2
Publication statusPublished - 1998

Keywords

  • Autosomal recessive polycystic kidney disease
  • Genetics

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