TY - JOUR
T1 - M
Varallo
T2 - A New M
Like Alpha 1-Antitrypsin-Deficient Allele
AU - Coni, Pierpaolo
AU - Pili, Elisabetta
AU - Convertino, Giuseppe
AU - Pichiri, Giuseppina
AU - Balestrino, Antonella
AU - Delmastro, Monica
AU - Donner, Claudio F.
AU - Faa, Gavino
AU - Balbi, Bruno
PY - 2003/12
Y1 - 2003/12
N2 - 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.
AB - 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.
KW - Alpha 1-antitryspin deficiency
KW - Chronic airflow limitation
KW - New M variant
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U2 - 10.1097/00019606-200312000-00008
DO - 10.1097/00019606-200312000-00008
M3 - Article
C2 - 14639110
AN - SCOPUS:0344851808
VL - 12
SP - 237
EP - 239
JO - Diagnostic Molecular Pathology
JF - Diagnostic Molecular Pathology
SN - 1052-9551
IS - 4
ER -