Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. [electronic resource]
- The Journal of clinical endocrinology and metabolism Apr 2002
- 1778-84 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-972X
10.1210/jcem.87.4.8435 doi
Biological Transport--genetics Carrier Proteins--genetics Cell Line Goiter--genetics HeLa Cells Hearing Loss, Sensorineural--genetics Humans Iodides--metabolism Membrane Transport Proteins Mutation--physiology Sulfate Transporters Syndrome Thyroid Gland--physiopathology Tissue Distribution