Taylor, Julie P

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