Article
Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families.
The Journal of clinical endocrinology and metabolism - 1 Sept 1992
Heath H, Leppert M F, Lifton R P, Penniston J T
Abstract excerpt
Despite extensive study since the first report of familial benign hypercalcemia (FBH, or hypocalciuric hypercalcemia) in 1972, there is no evidence of the specific abnormal gene product. FBH is highly suitable for either a candidate gene or a reverse genetics approach to localizing the genetic abnormality, because it is inherited in an autosomal dominant pattern, is highly penetrant, does not affect survival, and...
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