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Article

Presence of allele alphaLELY in an Amazonian Indian population.

American journal of hematology - 1 Mar 1998

Bassères D S, Salles T S, Costa F F, Saad S T

Abstract excerpt

Allele alphaLELY is a low-expression allele of the erythroid spectrin alpha-chain that is characterized by a C --> G mutation at position alpha1857 in exon 40 and a C --> T (nt -12) mutation in intron 45. This second mutation is probably responsible for the partial skipping of exon 46. This exon is essential for the nucleation of the alpha-chains by the beta-chains during erythropoeisis. Although allele alphaLELY...

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PMID: 9495371
DOI: 10.1002/(sici)1096-8652(199803)57:3<212::aid-ajh5>3.0.co;2-y

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Presence of allele alphaLELY in an Amazonian Indian population.PMID 9495371Read ↗

Ethnic distribution of allele alpha LELY, a low-expression allele of red-cell spectrin alpha-gene.Semantic proximity Read ↗

Expression of spectrin alphaI/50 hereditary elliptocytosis and its association with the alphaLELY allele.Semantic proximity Read ↗

A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.Semantic proximity Read ↗

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.Semantic proximity Read ↗

Mutation at position -12 of intron 45 (c-->t) plays a prevalent role in the partial skipping of exon 46 from the transcript of allele alphaLELY in erythroid cells.Semantic proximity Read ↗

Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans.Semantic proximity Read ↗

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