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Oxford University Press, The Journal of Clinical Endocrinology & Metabolism, 8(93), p. 3088-3096, 2008

DOI: 10.1210/jc.2007-2397

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Impact on Bone of an Estrogen Receptor-α Gene Loss of Function Mutation

Journal article published in 2008 by Eric P. Smith, Bonny Specker, Bert E. Bachrach, K. S. Kimbro, X. J. Li, Marian F. Young, Neal S. Fedarko, M. J. Abuzzahab, Graeme R. Frank, Robert M. Cohen, Dennis B. Lubahn, Kenneth S. Korach ORCID
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Context: The kindred described is the only known instance of a germ line loss of function mutation of estrogen receptor (ER)-α.