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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
Author(s) -
Angalena R.,
Aggarwal S.,
Phadke S. R.,
Dalal A.
Publication year - 2012
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2012.01412.x
Subject(s) - hepatosplenomegaly , hereditary spherocytosis , thalassemia , medicine , frameshift mutation , compound heterozygosity , population , genetics , mutation , pediatrics , biology , gene , disease , environmental health