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The super sickling haemoglobin HbS-Oman: a study of red cell sickling, K+ permeability and associations with disease severity in patients heterozygous for HbA and HbS-Oman (HbA/S-Oman genotype).
Al Balushi HWM, Wali Y, Al Awadi M, Al-Subhi T, Rees DC, Brewin JN, Hannemann A, Gibson JS. Al Balushi HWM, et al. Among authors: al awadi m. Br J Haematol. 2017 Oct;179(2):256-265. doi: 10.1111/bjh.14851. Epub 2017 Jul 12. Br J Haematol. 2017. PMID: 28699687 Free article. Clinical Trial.
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.
Al-Kindi A, Kizhakkedath P, Xu H, John A, Sayegh AA, Ganesh A, Al-Awadi M, Al-Anbouri L, Al-Gazali L, Leitinger B, Ali BR. Al-Kindi A, et al. Among authors: al awadi m. BMC Med Genet. 2014 Apr 11;15:42. doi: 10.1186/1471-2350-15-42. BMC Med Genet. 2014. PMID: 24725993 Free PMC article.
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