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A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major.
Int J Lab Hematol. 2010 Oct;32(5):548-9. doi: 10.1111/j.1751-553X.2009.01217.x. Epub 2010 Feb 2.
Int J Lab Hematol. 2010.
PMID: 20136848
No abstract available.
Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation.
Angalena R, Aggarwal S, Phadke SR, Dalal A.
Angalena R, et al.
Int J Lab Hematol. 2012 Aug;34(4):e7-9. doi: 10.1111/j.1751-553X.2012.01412.x. Epub 2012 Mar 12.
Int J Lab Hematol. 2012.
PMID: 22409273
No abstract available.
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Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians.
Naushad S, Jamal NJ, Angalena R, Prasad CK, Devi AR.
Naushad S, et al. Among authors: angalena r.
Blood Coagul Fibrinolysis. 2007 Mar;18(2):113-7. doi: 10.1097/MBC.0b013e3280108e01.
Blood Coagul Fibrinolysis. 2007.
PMID: 17287626
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Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development.
Prabhakara K, Angalena R, Ramadevi AR.
Prabhakara K, et al. Among authors: angalena r.
Genet Couns. 2004;15(1):37-41.
Genet Couns. 2004.
PMID: 15083697
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