Congenital Primary Hypothyroidism in a Turkish Family Caused by a Homozygous Nonsense Mutation (R609X) in the Thyrotropin Receptor Gene

Thyroid ◽  
2004 ◽  
Vol 14 (11) ◽  
pp. 971-974 ◽  
Author(s):  
Annette Richter-Unruh ◽  
Berthold P. Hauffa ◽  
Nicole Pfarr ◽  
Joachim Pohlenz
Keyword(s):  
Nonsense Mutation ◽  
Receptor Gene ◽  
Primary Hypothyroidism ◽  
Thyrotropin Receptor ◽  
Turkish Family ◽  
Homozygous Nonsense Mutation

Leprechaunism and homozygous nonsense mutation In the insulin receptor gene

The Lancet ◽  
1993 ◽  
Vol 342 (8876) ◽  
pp. 924 ◽  
Author(s):  
Helen Psiachou ◽  
Sally Mitton ◽  
J Alaghband-Zadeh ◽  
Jennifer Hone ◽  
SimeonI Taylor ◽  
...  
Keyword(s):  
Insulin Receptor ◽  
Nonsense Mutation ◽  
Receptor Gene ◽  
Insulin Receptor Gene ◽  
Homozygous Nonsense Mutation

scholarly journals Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

2014 ◽  
Vol 134 (1) ◽  
pp. 215-218.e3 ◽  
Author(s):  
Siobhan O. Burns ◽  
Vincent Plagnol ◽  
Beatriz Morillo Gutierrez ◽  
Daifulah Al Zahrani ◽  
James Curtis ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Mycobacterial Infection ◽  
Homozygous Nonsense Mutation
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