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pro vyhledávání: '"I R, Wilkinson"'
Autor:
A, Milward, L, Metherell, M, Maamra, M J, Barahona, I R, Wilkinson, C, Camacho-Hübner, M O, Savage, M, Bidlingmaier, C M, Bidlingmaier, A J L, Clark, R J M, Ross, S M, Webb
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 89:1259-1266
Congenital GH insensitivity syndrome (GHIS) is usually the result of a mutation in the extracellular domain of the GH receptor (GHR). We report one of only a small number of mutations so far identified within the intracellular domain of the GHR. The