Search Results

You are looking at 1 - 1 of 1 items for :

  • GHR pseudoexon x
Clear All
Open access

Sumana Chatterjee, Emily Cottrell, Stephen J Rose, Talat Mushtaq, Avinaash V Maharaj, Jack Williams, Martin O Savage, Louise A Metherell and Helen L Storr

features in 20 6Ψ subjects, which included eleven previously reported individuals and nine additional patients ( 21 ). The GHR 6Ψ mutation (c.618+792A>G) is a homozygous point mutation in the final nucleotide of the pseudoexon, altering the 5