Concepedia

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

Phillip T. Brook-Carter, Belén Peral, Christopher J. Ward, Peter Thompson, Jim R. Hughes, Magitha M. Maheshwar, Mark Nellist, Vicki Gamble, Peter C. Harris, Julian R. Sampson

Nature Genetics · 1994 · 510 citations · 26 references

DOI

Concepts

References

26

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer.

Michael A. Frohman, Michael Dush, Gail R. Martin · Proceedings of the National Academy of Sciences · 1988 · 4.6K citations · Full text

, , +13

Identification and characterization of the tuberous sclerosis gene on chromosome 16

Cell · 1993 · 1.7K citations

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High-Resolution Mapping of Human Chromosome 11 by in Situ Hybridization with Cosmid Clones

Peter Lichter, Chieh-Ju C. Tang, Katherine M. Call et al. · Science · 1990 · 1.3K citations

, , +15

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

D. Pinkel, J. E. Landegent, Colin C. Collins et al. · Proceedings of the National Academy of Sciences · 1988 · 1.3K citations · Full text

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The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16

The European Polycystic Kidney Dise · Cell · 1994 · 902 citations · Full text

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