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- W2005457989 abstract "A 73-year-old never-smoker woman with chronic bronchitis, increasing dyspnoea, and airflow limitation with a FEV1 of 49% of predicted value had low serum level of alpha-1-antitrypsin (69 mg/dL, normal range 150-350). Isoelectric focusing showed an Mlike pattern. Direct sequencing showed, in the second exon, a particular DNA alteration localized between codon 41 and codon 51: a region of 30 base pairs (bp) was completely deleted and substituted by a 22-bp sequence. The resulting loss of 8 bp yields, in the second exon, a 70-71 stop codon. This new Mlike variant was denominated MVarallo from the site where it was discovered." @default.
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- W2005457989 date "2003-12-01" @default.
- W2005457989 modified "2023-09-23" @default.
- W2005457989 title "MVarallo: A New MLike Alpha 1-Antitrypsin-Deficient Allele" @default.
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- W2005457989 doi "https://doi.org/10.1097/00019606-200312000-00008" @default.
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