Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations

Terry Watnick, Ning He, Kairong Wang, Yan Liang, Patrick Parfrey, Donna Hefferton, Peter St. George-Hyslop, Gregory Germino, York Pei

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)143-144
Number of pages2
JournalNature Genetics
Volume25
Issue number2
DOIs
StatePublished - Jun 2000

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DNA Mutational Analysis
TRPP Cation Channels
Autosomal Dominant Polycystic Kidney
Single-Stranded Conformational Polymorphism
Germ-Line Mutation
Loss of Heterozygosity
Heterozygote
Single Nucleotide Polymorphism
Cysts
Exons
Membrane Proteins
Clone Cells
Mutation
Proteins

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Watnick, T., He, N., Wang, K., Liang, Y., Parfrey, P., Hefferton, D., ... Pei, Y. (2000). Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations. Nature Genetics, 25(2), 143-144. https://doi.org/10.1038/75981

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations. / Watnick, Terry; He, Ning; Wang, Kairong; Liang, Yan; Parfrey, Patrick; Hefferton, Donna; St. George-Hyslop, Peter; Germino, Gregory; Pei, York.

In: Nature Genetics, Vol. 25, No. 2, 06.2000, p. 143-144.

Research output: Contribution to journalArticle

Watnick, T, He, N, Wang, K, Liang, Y, Parfrey, P, Hefferton, D, St. George-Hyslop, P, Germino, G & Pei, Y 2000, 'Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations', Nature Genetics, vol. 25, no. 2, pp. 143-144. https://doi.org/10.1038/75981
Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D et al. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations. Nature Genetics. 2000 Jun;25(2):143-144. https://doi.org/10.1038/75981
Watnick, Terry ; He, Ning ; Wang, Kairong ; Liang, Yan ; Parfrey, Patrick ; Hefferton, Donna ; St. George-Hyslop, Peter ; Germino, Gregory ; Pei, York. / Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations. In: Nature Genetics. 2000 ; Vol. 25, No. 2. pp. 143-144.
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