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- W2068178052 abstract "A gene (NPH1) responsible for approximately 90% of the purely renal form of familial juvenile nephronophthisis, a progressive tubulo-interstitial kidney disorder, maps to human chromosome 2. We report the construction of a YAC-based contig spanning the critical NPH1 region and the flanking genetic markers. This physical map was integrated with a refined genetic map that restricted the NPH1 interval to about 2 cM; this interval corresponds to a maximum physical distance of 3.5 Mb. The entire contig covers 9 cM between the loci D2S135 and D2S121. The maximum physical distance between these two markers is approximately 11.3 Mb. Forty-five sequence-tagged sites, including six genes, have been located within this contig. PAX8, a member of the human paired box gene family, that is expressed in the developing kidney, was assigned outside the restricted NPH1 critical region and cannot therefore be regarded as a candidate gene. This set of overlapping clones represents a useful resource for further targeted development of genetic markers and for the characterization of candidate genes responsible for juvenile nephronophthisis." @default.
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- W2068178052 date "1995-12-01" @default.
- W2068178052 modified "2023-10-18" @default.
- W2068178052 title "A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q" @default.
- W2068178052 doi "https://doi.org/10.1006/geno.1995.1272" @default.
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