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• W2001235042 startingPage "1777" @default.
• W2001235042 abstract "A 7.5 kb Hsu I restriction fragment of genomic DNA containing a beta-globin gene has been isolated from a patient doubly heterozygous for beta + thalassaemia and a delta beta (Lepore globin fusion gene. This fragment must be derived from the chromosome carrying the beta +-thalassaemia determinant. The gross structure of the cloned gene plus flanking sequences is indistinguishable from that of a normal beta-globin gene. Within in 1606 base-pair transcribed region of the gene there is only one nucleotide difference from the normal beta-globin gene sequence. This is a G leads to A replacement 21 nucleotides upstream from the 3' terminus of the small intron. This nucleotide lies within a 10 base-pair sequence repeated in an inverted configuration near the 5' terminus of the small intron. The nucleotide replacement may result in a precursor mRNA less amenable to RNA splicing than its normal counterpart." @default.
• W2001235042 created "2016-06-24" @default.
• W2001235042 creator A5014473479 @default.
• W2001235042 creator A5020294139 @default.
• W2001235042 date "1981-01-01" @default.
• W2001235042 modified "2023-10-16" @default.
• W2001235042 title "An intron nucleotide sequence variant in a cloned β⁺-thalassaemia globin gene" @default.
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• W2001235042 doi "https://doi.org/10.1093/nar/9.8.1777" @default.
• W2001235042 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/326802" @default.
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