Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Nature Genetics

• Publication date

  2000-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/81563PMID 11062463
• 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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  1991cited by this paper
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  1989cited by this paper
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  1988cited by this paper

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