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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
Eamonn R Maher
,
Aston Medical School
College of Health and Life Sciences
Research output
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peer-review
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Dive into the research topics of 'Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism'. Together they form a unique fingerprint.
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Keyphrases
Gain-of-function mutation
100%
Congenital Hypothyroidism
100%
SLC26A7
100%
Thyroid Hormone Biosynthesis
40%
Pendrin
40%
Loss Function
20%
Gene mutation
20%
Iodine
20%
Hypothyroidism
20%
Chloride
20%
Iodide
20%
Null Mice
20%
Goiter
20%
Ion Exchanger
20%
Thyroid Gland
20%
Iodine Supplementation
20%
Truncating mutation
20%
Thyroid Hormone Synthesis
20%
Transporter Family
20%
Iodide Efflux
20%
Congenital Deafness
20%
SLC26A4
20%
Dyshormonogenic Congenital Hypothyroidism
20%
Biochemistry, Genetics and Molecular Biology
Loss of Function Mutation
100%
Thyroid Hormone Synthesis
100%
Tincture of Iodine
66%
Pendrin
66%
Gene Mutation
33%
Knockout Mouse
33%