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Next Generation Sequencing Allows Identification of a Novel Mutation in the TfR2 Gene and Outperforms the Conventional Diagnostic Techniques.

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Title: Next Generation Sequencing Allows Identification of a Novel Mutation in the TfR2 Gene and Outperforms the Conventional Diagnostic Techniques.
Authors: Longo M; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Paolini E; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Meroni M; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Cinque F; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.; Department of Pathophysiology and Transplantation University of Milan Milan Italy., Bertelli C; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Pisano G; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Maggioni M; Division of Pathology Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy., Fracanzani AL; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.; Department of Pathophysiology and Transplantation University of Milan Milan Italy., Lombardi R; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.; Department of Pathophysiology and Transplantation University of Milan Milan Italy., Dongiovanni P; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
Source: EJHaem [EJHaem] 2025 Jun 26; Vol. 6 (4), pp. e70073. Date of Electronic Publication: 2025 Jun 26 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101761942 Publication Model: eCollection Cited Medium: Internet ISSN: 2688-6146 (Electronic) Linking ISSN: 26886146 NLM ISO Abbreviation: EJHaem Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Next Generation Sequencing Allows Identification of a Novel Mutation in the TfR2 Gene and Outperforms the Conventional Diagnostic Techniques.
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  Data: <searchLink fieldCode="AU" term="%22Longo+M%22">Longo M</searchLink>; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.<br /><searchLink fieldCode="AU" term="%22Paolini+E%22">Paolini E</searchLink>; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.<br /><searchLink fieldCode="AU" term="%22Meroni+M%22">Meroni M</searchLink>; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.<br /><searchLink fieldCode="AU" term="%22Cinque+F%22">Cinque F</searchLink>; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.; Department of Pathophysiology and Transplantation University of Milan Milan Italy.<br /><searchLink fieldCode="AU" term="%22Bertelli+C%22">Bertelli C</searchLink>; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.<br /><searchLink fieldCode="AU" term="%22Pisano+G%22">Pisano G</searchLink>; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.<br /><searchLink fieldCode="AU" term="%22Maggioni+M%22">Maggioni M</searchLink>; Division of Pathology Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.<br /><searchLink fieldCode="AU" term="%22Fracanzani+AL%22">Fracanzani AL</searchLink>; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.; Department of Pathophysiology and Transplantation University of Milan Milan Italy.<br /><searchLink fieldCode="AU" term="%22Lombardi+R%22">Lombardi R</searchLink>; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.; Department of Pathophysiology and Transplantation University of Milan Milan Italy.<br /><searchLink fieldCode="AU" term="%22Dongiovanni+P%22">Dongiovanni P</searchLink>; Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
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  Data: <searchLink fieldCode="JN" term="%22101761942%22">EJHaem</searchLink> [EJHaem] 2025 Jun 26; Vol. 6 (4), pp. e70073. <i>Date of Electronic Publication: </i>2025 Jun 26 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%2C+Inc%22">John Wiley & Sons, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101761942 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2688-6146 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226886146%22">26886146 </searchLink><i>NLM ISO Abbreviation: </i>EJHaem <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2025 Jun 26
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