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Characterization of Two Novel Homozygous Missense Mutations..:

Zhang, Li ; Mason, J. Ian ; Naiki, Yasuhiro...
The Journal of Clinical Endocrinology & Metabolism.  85 (2000)  4 - p. 1678-1685 , 2000
Link: https://doi.org/10.1210/jcem.85.4.6539