Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Kidney International

• Publication date

  2000-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1046/J.1523-1755.2000.00859.XPMID 10652016
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

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  2012cites this paper
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  2006cites this paper
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