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Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human

Academic Article
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  • Additional Document Info
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Overview

authors

  • Alur, R. P.
  • Vijayasarathy, C.
  • Brown, J. D.
  • Mehtani, M.
  • Onojafe, I. F.
  • Sergeev, Y. V.
  • Boobalan, E.
  • Jones, M.
  • Tang, K.
  • Liu, H.
  • Xia, C. H.
  • Gong, Xiaohua
  • Brooks, B. P.

publication date

  • March 2010

journal

  • PLoS Genetics  Journal

subject areas

  • Abnormalities, Multiple
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Cell Line
  • Cerebellum
  • DNA
  • Embryo, Mammalian
  • Eye
  • Gene Expression Regulation, Developmental
  • Humans
  • Kidney
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Mutant Proteins
  • Mutation, Missense
  • PAX2 Transcription Factor
  • Phenotype
  • RNA, Messenger
  • Structural Homology, Protein
  • Syndrome
  • Time Factors
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Identity

PubMed Central ID

  • PMC2832668

International Standard Serial Number (ISSN)

  • 1553-7390

Digital Object Identifier (DOI)

  • 10.1371/journal.pgen.1000870

PubMed ID

  • 20221250
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Additional Document Info

volume

  • 6

issue

  • 3

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