A Novel EXT1 Splice Site Mutation in a Kindred with Hereditary Multiple Exostosis and Osteoporosis
Lemos, Manuel C ; Kotanko, Peter ; Christie, Paul T ; Harding, Brian ; Javor, Theodora ; Smith, Christine ; Eastell, Richard ; Thakker, Rajesh V
The journal of clinical endocrinology and metabolism, 2005-09, Vol.90 (9), p.5386-5392 [Periódico revisado por pares]Bethesda, MD: Endocrine Society
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