Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.
E Raffan,
MA Soos,
N Rocha,
A Tuthill,
AR Thomsen,
CS Hyden,
JW Gregory,
P Hindmarsh,
M Dattani,
E Cochran,
J Al Kaabi,
P Gorden,
I Barroso,
N Morling,
S O'Rahilly,
RK Semple
Feb 05, 2020
AIMS/HYPOTHESIS: Genetic insulin receptoropathies are a rare cause of severe insulin resistance. We identified the Ile119Met missense mutation in the insulin receptor INSR gene, previously reported in a Yemeni kindred, in four...