M 
                    Varallo: A New M 
                    Like Alpha 1-Antitrypsin-Deficient Allele

Pierpaolo Coni; Elisabetta Pili; Giuseppe Convertino; Giuseppina Pichiri; Antonella Balestrino; Monica Delmastro; Claudio F. Donner; Gavino Faa; Bruno Balbi

doi:10.1097/00019606-200312000-00008

M Varallo: A New M Like Alpha 1-Antitrypsin-Deficient Allele

Pierpaolo Coni, Elisabetta Pili, Giuseppe Convertino, Giuseppina Pichiri, Antonella Balestrino, Monica Delmastro, Claudio F. Donner, Gavino Faa, Bruno Balbi

Istituti Clinici Scientifici Maugeri Spa – Società Benefit

Research output: Contribution to journal › Article › peer-review

Abstract

A 73-year-old never-smoker woman with chronic bronchitis, increasing dyspnoea, and airflow limitation with a FEV, of 49% of predicted value had low serum level of alpha-1-antitrypsin (69 mg/dL, normal range 150-350). Isoelectric focusing showed an M _like 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 M _like variant was denominated M _Varallo from the site where it was discovered.

Original language	English
Pages (from-to)	237-239
Number of pages	3
Journal	Diagnostic Molecular Pathology
Volume	12
Issue number	4
DOIs	https://doi.org/10.1097/00019606-200312000-00008
Publication status	Published - Dec 2003

Keywords

Alpha 1-antitryspin deficiency
Chronic airflow limitation
New M variant

ASJC Scopus subject areas

Pathology and Forensic Medicine

Access to Document

10.1097/00019606-200312000-00008

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M Varallo : A New M Like Alpha 1-Antitrypsin-Deficient Allele. / Coni, Pierpaolo; Pili, Elisabetta; Convertino, Giuseppe; Pichiri, Giuseppina; Balestrino, Antonella; Delmastro, Monica; Donner, Claudio F.; Faa, Gavino; Balbi, Bruno.

In: Diagnostic Molecular Pathology, Vol. 12, No. 4, 12.2003, p. 237-239.

Research output: Contribution to journal › Article › peer-review

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abstract = "A 73-year-old never-smoker woman with chronic bronchitis, increasing dyspnoea, and airflow limitation with a FEV, of 49% of predicted value had low serum level of alpha-1-antitrypsin (69 mg/dL, normal range 150-350). Isoelectric focusing showed an M like 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 M like variant was denominated M Varallo from the site where it was discovered.",

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AU - Balestrino, Antonella

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AU - Donner, Claudio F.

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