Penetrance and Phenotype of the Cys433Arg Myocilin Mutation in a Family Pedigree with Primary Open-Angle Glaucoma

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Journal of glaucoma

• Publication date

  2003-04-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/00061198-200304000-00003PMID 12671463
• 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.

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  1998cited by this paper
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  1998cited by this paper
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  1996cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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  1993cited by this paper
• Molecular cloning of olfactomedin, an extracellular matrix protein specific to olfactory neuroepithelium.

  1993cited by this paper
• Olfactomedin: purification, characterization, and localization of a novel olfactory glycoprotein.

  1991cited by this paper
• The epidemiology of open-angle glaucoma: a review.

  1983cited by this paper
• Open-angle glaucoma.

  1972influential reference

• Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis

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  2019cites this paper
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  2018cites this paper
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  2013cites this paper
• Genetics of the Pediatric Glaucomas

  2011cites this paper
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  2011cites this paper
• Caracterización del glaucoma juvenil

  2011cites this paper
• CHAPTER 20 – Genetics of glaucoma

  2009cites this paper
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  2008cites this paper
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  2008cites this paper
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  2008cites this paper
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  2006cites this paper
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  2006cites this paper
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  2004cites this paper
• In vitro and in vivo characterization of disulfide bond use in myocilin complex formation.

  2004cites this paper
• Genetic dissection of myocilin glaucoma.

  2004cites this paper