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 A Nonsense Mutation in the Arg345 of the Insulin Receptor Gene in a Japanese Type A Insulin-resistant Patient

2005 ◽  
Vol 52 (4) ◽  
pp. 499-504 ◽  
Author(s):  
Mitsuru HASHIRAMOTO ◽  
Haruhiko OSAWA ◽  
Mitsuhiro ANDO ◽  
Akiko MURAKAMI ◽  
Tatsuya NISHIMIYA ◽  
...  
Keyword(s):  
Insulin Receptor ◽  
Nonsense Mutation ◽  
Receptor Gene ◽  
Type A ◽  
Insulin Receptor Gene ◽  
Insulin Resistant ◽  
Resistant Patient

Methionine for valine substitution in exon 17 of the insulin receptor gene in a pedigree with familial NIDDM

Diabetes ◽  
1993 ◽  
Vol 42 (3) ◽  
pp. 429-434 ◽  
Author(s):  
S. C. Elbein ◽  
L. K. Sorensen ◽  
M. C. Schumacher
Keyword(s):  
Insulin Receptor ◽  
Receptor Gene ◽  
Insulin Receptor Gene

Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms

Diabetes ◽  
1991 ◽  
Vol 40 (6) ◽  
pp. 777-782 ◽  
Author(s):  
S. O'Rahilly ◽  
W. H. Choi ◽  
P. Patel ◽  
R. C. Turner ◽  
J. S. Flier ◽  
...  
Keyword(s):  
Insulin Receptor ◽  
Receptor Gene ◽  
Insulin Receptor Gene ◽  
Detection Of Mutations ◽  
Niddm Patients

NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene

Diabetes ◽  
1992 ◽  
Vol 41 (4) ◽  
pp. 521-526 ◽  
Author(s):  
S. Cocozza ◽  
A. Porcellini ◽  
G. Riccardi ◽  
A. Monticelli ◽  
G. Condorelli ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Kinase Domain ◽  
Tyrosine Kinase Domain ◽  
Insulin Receptor Gene
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