Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. Here we report on a large MCKD1 family of British origin linked to the MCKD1 loc...

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Veröffentlicht in:	Genomics (San Diego, Calif.) Calif.), 2001-03, Vol.72 (3), p.278-284
Hauptverfasser:	Fuchshuber, A., Kroiss, S., Karle, S., Berthold, S., Huck, K., Burton, C., Rahman, N., Koptides, M., Deltas, C., Otto, E., Rüschendorf, F., Feest, T., Hildebrandt, F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animal, plant and microbial ecology Biological and medical sciences Chromosome 1 Chromosomes, Human, Pair 1 - genetics Classical genetics, quantitative genetics, hybrids Contig Mapping DNA - genetics Expressed sequence tags Family Health Female Fundamental and applied biological sciences. Psychology General aspects. Techniques Genetic Linkage Genetics of eukaryotes. Biological and molecular evolution Haplotypes Human Humans Interstitial nephritis Male MCKD1 gene Medical sciences medullary cystic kidney disease Microsatellite Repeats Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure P1 artificial chromosomes Pedigree Physical Chromosome Mapping Polycystic Kidney, Autosomal Dominant - genetics Polycystic Kidney, Autosomal Dominant - pathology Teledetection and vegetation maps Transcription, Genetic
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