video

sound

Persian Version

View:

594

Download:

Cites:

Information Seminar Paper

Title

A NOVEL A→G MUTATION IN EXON 11 OF THE PKD1GENE IN A PATIENT AFFECTED WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Pages

 Start Page | End Page

Abstract

 INTRODUCTION: AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD) IS ONE OF THE MOST COMMON GENETIC KIDNEY DISORDERS WITH THE INCIDENCE OF 1 IN 1000 BIRTHS. ADPKD IS GENETICALLY HETEROGENEOUS, WITH TWO GENES IDENTIFIED: PKD1 (16P13.3, 46 EXONS) AND PKD2 (4Q21, 15 EXONS). 85% OF PATIENTS WITH ADPKD HAVE AT LEAST ONE MUTATION IN THE PKD1 GENE. GENETIC STUDIES HAVE DEMONSTRATED AN IMPORTANT ALLELIC VARIABILITY AMONG PATIENTS BUT VERY FEW DATA ARE KNOWN ABOUT THE GENETIC VARIATION IN IRANIAN POPULATIONS...

Cites

  • No record.
  • References

  • No record.
  • Related Journal Papers

  • No record.
  • Related Seminar Papers

  • No record.
  • Related Plans

  • No record.
  • Recommended Workshops