A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

Am J Hum Genet. 1999 Jan;64(1):304-8. doi: 10.1086/302184.
No abstract available

Publication types

  • Letter

MeSH terms

  • Animals
  • Aspartic Acid Endopeptidases / genetics*
  • Autonomic Nervous System Diseases / complications
  • Autonomic Nervous System Diseases / genetics*
  • Blotting, Western
  • CHO Cells
  • Cricetinae
  • Endothelin-1
  • Endothelin-3
  • Endothelin-Converting Enzymes
  • Endothelins / genetics
  • Exons
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / genetics*
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / epidemiology
  • Hirschsprung Disease / genetics*
  • Humans
  • Incidence
  • Infant, Newborn
  • Metalloendopeptidases / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Protein Precursors / genetics

Substances

  • Endothelin-1
  • Endothelin-3
  • Endothelins
  • Protein Precursors
  • Aspartic Acid Endopeptidases
  • Metalloendopeptidases
  • ECE1 protein, human
  • Endothelin-Converting Enzymes

Associated data

  • GENBANK/X91922
  • GENBANK/X91923
  • GENBANK/X91924
  • GENBANK/X91925
  • GENBANK/X91926
  • GENBANK/X91927
  • GENBANK/X91928
  • GENBANK/X91929
  • GENBANK/X91930
  • GENBANK/X91931
  • GENBANK/X91932
  • GENBANK/X91933
  • GENBANK/X91934
  • GENBANK/X91935
  • GENBANK/X91936
  • GENBANK/X91937
  • GENBANK/X91938
  • GENBANK/X91939