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Article

Band 3 Chur: a variant associated with band 3‐deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11

1 Dec 1995

Abstract excerpt

We studied a large Swiss family with dominantly inherited hereditary spherocytosis and band 3 (anion exchanger 1, AE1) deficiency. Band 3 cDNA was analysed by single-strand conformation polymorphism analysis and nucleotide sequencing. A new point mutation was found: G771D (GGC-->GAC). This change was present in all eight investigated patients but absent in four healthy members of the family. It is located at a...

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Identifiers

PMID: 8547122
DOI: 10.1111/j.1365-2141.1995.tb05393.x

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Band 3 Chur: a variant associated with band 3‐deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11PMID 8547122Read ↗

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