A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE- 1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction [6]

R. M W Hofstra, O. Valdenaire, E. Arch, J. Osinga, H. Kroes, M. Loffler B.-, Ada Hamosh, C. Meijers, C. H C M Buys

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)304-308
Number of pages5
JournalAmerican Journal of Human Genetics
Volume64
Issue number1
DOIs
StatePublished - 1999
Externally publishedYes

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Aspartic Acid Endopeptidases
Molecular Sequence Data
Autonomic Nervous System Diseases
Metalloendopeptidases
Endothelin-3
Hirschsprung Disease
Protein Precursors
Congenital Heart Defects
CHO Cells
Endothelins
Endothelin-1
Cricetinae
Exons
Western Blotting
Newborn Infant
Mutation
Incidence
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Endothelin-Converting Enzymes

ASJC Scopus subject areas

  • Genetics

Cite this

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE- 1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction [6]. / Hofstra, R. M W; Valdenaire, O.; Arch, E.; Osinga, J.; Kroes, H.; Loffler B.-, M.; Hamosh, Ada; Meijers, C.; Buys, C. H C M.

In: American Journal of Human Genetics, Vol. 64, No. 1, 1999, p. 304-308.

Research output: Contribution to journalArticle

Hofstra, R. M W ; Valdenaire, O. ; Arch, E. ; Osinga, J. ; Kroes, H. ; Loffler B.-, M. ; Hamosh, Ada ; Meijers, C. ; Buys, C. H C M. / A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE- 1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction [6]. In: American Journal of Human Genetics. 1999 ; Vol. 64, No. 1. pp. 304-308.
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