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Literature for OMIM 300523: ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
Xenbase Articles:
( Denotes literature images)
Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones., Braun D,Schweizer U, Endocrinology. December 1, 2015; 156(12):1945-7170. |
From zebrafish to human: A comparative approach to elucidate the role of the thyroid hormone transporter MCT8 during brain development., Vancamp P,Darras VM, Gen Comp Endocrinol. September 1, 2018; 265:1095-6840. |