An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells. [PDF]
J Clin Invest, 1993 Conboy JG +5 more
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Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements. [PDF]
J Clin Invest, 1990 Conboy J +5 more
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The structure of the human beta-globin gene in beta-thalassaemia. [PDF]
Nucleic Acids Res, 1979 Flavell RA +6 more
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Structure and expression of a cloned beta o thalassaemic globin gene. [PDF]
Nucleic Acids Res, 1981 Moschonas N +6 more
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Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient. [PDF]
Nucleic Acids Res, 1982 Spence SE +5 more
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Abnormal splice in a mutant human beta-globin gene not at the site of a mutation. [PDF]
Proc Natl Acad Sci U S A, 1983 Dobkin C +3 more
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alpha-Thalassemia caused by an unstable alpha-globin mutant. [PDF]
J Clin Invest, 1983 Liebhaber SA, Kan YW.
europepmc +1 more source
Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG). [PDF]
J Clin Invest, 1987 Liebhaber SA +4 more
europepmc +1 more source
Isolation and characterization of cloned human fetal globin genes. [PDF]
Nucleic Acids Res, 1979 Ramirez F +5 more
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Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin. [PDF]
Proc Natl Acad Sci U S A, 1987 Prchal JT +6 more
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