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; A. Hamosh; C. Meijers; C. H.C.M. Buys

doi:10.1086/302184

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, A. Hamosh, C. Meijers, C. H.C.M. Buys

Research output: Contribution to journal › Letter › peer-review

Original language	English (US)
Pages (from-to)	304-307
Number of pages	4
Journal	American journal of human genetics
Volume	64
Issue number	1
DOIs	https://doi.org/10.1086/302184
State	Published - 1999
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Hofstra, R. M. W., Valdenaire, O., Arch, E., Osinga, J., Kroes, H., Loffler, M., Hamosh, A., Meijers, C., & Buys, C. H. C. M. (1999). A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE- 1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction [6]. American journal of human genetics, 64(1), 304-307. https://doi.org/10.1086/302184

Hofstra, RMW, Valdenaire, O, Arch, E, Osinga, J, Kroes, H, Loffler, M, Hamosh, A, Meijers, C & Buys, CHCM 1999, 'A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE- 1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction [6]', American journal of human genetics, vol. 64, no. 1, pp. 304-307. https://doi.org/10.1086/302184

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AU - Loffler, M.

AU - Hamosh, A.

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AU - Buys, C. H.C.M.

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

ASJC Scopus subject areas

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