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A Novel Point Mutation in the Intracellular Domain of there..:

Hofstra, Robert M. W. ; Fattoruso, Olimpia ; Quadro, Loredana...
The Journal of Clinical Endocrinology & Metabolism.  82 (1997)  12 - p. 4176-4178 , 1997
Link: https://doi.org/10.1210/jcem.82.12.4439