Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Nature Genetics

• Publication date

  2000-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/78071PMID 10932181
• 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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• A comprehensive genetic map of the human genome based on 5,264 microsatellites

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  1995cited by this paper
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  1994cited by this paper
• Guidebook to the homeobox genes

  1994cited by this paper
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  1993cited by this paper
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  1991cited by this paper
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  1990cited by this paper
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  1990cited by this paper
• Basic local alignment search tool.

  1990cited by this paper
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  1972cited by this paper
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  1962cited by this paper

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