Identification of a novel mutation (A268G) in exon 8 of the HTR beta gene in a large family with thyroid hormone resistance.
Jézéquel
P
P
Laboratory of Molecular Genetics, CHU Poruchaillou, Rennes, France.
Guilhem
I
I
Hespel
J P
JP
Le Treut
A
A
Gall
J Y
JY
Allannic
H
H
Blayau
M
M
D000409:Alanine; D005091:Exons; D005260:Female; D005998:Glycine; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*
D011988:Receptors, Thyroid Hormone; D000409:Alanine; D005998:Glycine