Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Human Genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00439-007-0438-8PMID 17955262
• 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.

• Familial Exudative Vitreoretinopathy

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• Mutational Analysis of Norrin-Frizzled4 Recognition*

  2006influential reference
• G-protein beta 3 subunit polymorphism C1429T and low-density lipoprotein receptor-related protein 5 polymorphism A1330V are risk factors for hypercholesterolemia in Japanese males--a prospective study over 5 years.

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• [Association of polymorphism of low density lipoprotein receptor-related protein 5 Q89R, A1330V with bone mineral density in premenopausal northern Chinese women].

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• Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

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• Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy

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