Molecular genetics of vascular malformations.

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Matrix Biology

• Publication date

  2001-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/S0945-053X(01)00150-0PMID 11566267
• 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.

• Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC

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• Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

  2000cited by this paper
• High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22.

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• Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.

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• Mutations in KRIT1 in familial cerebral cavernous malformations.

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• Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

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  1999cited by this paper
• Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

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