Four Mutant Alleles of the Insulin Receptor Gene Associated with Genetic Syndromes of Extreme Insulin Resistance

1997 ◽  
Vol 237 (3) ◽  
pp. 516-520 ◽  
Author(s):  
Hiroko Kadowaki ◽  
Yoshihiko Takahashi ◽  
Akifumi Ando ◽  
Kaoru Momomura ◽  
Yasushi Kaburagi ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Genetic Syndromes ◽  
Insulin Receptor Gene ◽  
Extreme Insulin Resistance

Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance

Science ◽  
1988 ◽  
Vol 240 (4853) ◽  
pp. 787-790 ◽  
Author(s):  
T Kadowaki ◽  
C. Bevins ◽  
A Cama ◽  
K Ojamaa ◽  
B Marcus-Samuels ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Insulin Receptor Gene ◽  
Extreme Insulin Resistance

scholarly journals Mutations in the Insulin Receptor Gene in Patients with Genetic Syndromes of Insulin Resistance and Acanthosis Nigricans

1992 ◽  
Vol 98 (6) ◽  
pp. S77-S81 ◽  
Author(s):  
Domenico Accili ◽  
Fabrizio Barbetti ◽  
Alessandro Cama ◽  
Hiroko Kadowaki ◽  
Takashi Kadowaki ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Acanthosis Nigricans ◽  
Receptor Gene ◽  
Genetic Syndromes ◽  
Insulin Receptor Gene

A 3-basepair in-frame deletion (delta Leu999) in exon 17 of the insulin receptor gene in a family with insulin resistance.

1994 ◽  
Vol 79 (6) ◽  
pp. 1840-1844
Author(s):  
T Awata ◽  
C Matsumoto ◽  
K Momomura ◽  
Y Takahashi ◽  
M Odawara ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Insulin Receptor Gene

scholarly journals Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

2020 ◽  
Vol 11 (2) ◽  
pp. 90-96
Author(s):  
Aydilek Dagdeviren Cakir ◽  
Said Saidov ◽  
Hande Turan ◽  
Serdar Ceylaner ◽  
Yavuz Özer ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Insulin Resistance Syndrome ◽  
Insulin Receptor Gene ◽  
Severe Insulin Resistance ◽  
Novel Variants
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