Publication Name	World Journal of Hepatology
Manuscript ID	3630
Country	Italy

Received	2013-05-10 09:43
Peer-Review Started	2013-05-10 19:50
To Make the First Decision	2013-06-09 10:06
Return for Revision	2013-06-20 10:28
Revised	2013-07-02 00:28
Second Decision	2013-08-06 08:49
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2013-08-06 17:34
Articles in Press
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2013-08-24 19:01
Publish the Manuscript Online	2013-09-20 12:54

ISSN	1948-5182 (online)
Open Access
Copyright
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Category	Gastroenterology & Hepatology
Manuscript Type	Case Report
Article Title	Novel alpha1-antitrypsin null variant (PiQ0Milano)
Manuscript Source	Invited Manuscript
All Author List	Raffaela Rametta, Gabriella Nebbia, Paola Dongiovanni, Marcello Farallo, Silvia Fargion and Luca Valenti
Funding Agency and Grant Number	Funding Agency Grant Number Borsa M. Coppo AISF, Italian Association for the Study of the Liver to Rametta R
Corresponding Author	Luca Valenti, MD, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Policlinico, Pad. Granelli, via F Sforza 25, 20122 Milano, Italy. luca.valenti@unimi.it
Key Words	Alpha1-antitrypsin deficiency; Rare variant; Alpha1-antitrypsin null mutation; Liver disease
Core Tip	We report an incidental finding of a novel null alpha1-antitrypsin (AAT) allele, Q0Milano, consisting of a 17 nucleotides deletion in exon 3 of SERPINA1 gene, in an Italian child with persistently increased in liver enzymes and a mild decrease in circulating AAT levels. Q0Milano variant results in an unfunctional protein lacking of AAT active site, as the resultant protein is truncated near PiS locus involved in AAT protein stability.
Publish Date	2013-09-20 12:54
Citation	Rametta R, Nebbia G, Dongiovanni P, Farallo M, Fargion S, Valenti L. A novel alpha1-antitrypsin null variant (PiQ0Milano). World J Hepatol 2013; 5(8): 458-461
URL	http://www.wjgnet.com/1948-5182/full/v5/i8/458.htm
DOI	http://dx.doi.org/10.4254/wjh.v5.i8.458

Full Article (PDF)	WJH-5-458.pdf
Manuscript File	3630-Review.doc
Answering Reviewers	3630-Answering reviewers.pdf
Copyright License Agreement	3630-Copyright assignment.pdf
Peer-review Report	3630-Peer reviewer(s).pdf
Scientific Editor Work List	3630-Scientific editor work list.doc