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Naslov Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis (Article)
Autori Frattini A  Pangrazio A  Susani L  Sobacchi Cristina  Mirolo M  Abinun Mario  Andolina M  Flanagan A  Horwitz EM  Mihci E  Notarangelo LD  Ramenghi U  Teti A  van Hove JLK  Vujic Dragana S  Young T  Albertini A  Orchard PJ  Vezzoni P  Villa A 
Info JOURNAL OF BONE AND MINERAL RESEARCH, (2003), vol. 18 br. 10, str. 1740-1747
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations (Article)
Autori Villa A  Sobacchi Cristina  Notarangelo LD  Bozzi F  Abinun Mario  Abrahamsen TG  Arkwright PD  Baniyash M  Brooks EG  Conley ME  Cortes P  Duse M  Fasth A  Filipovic Aleksandra M  Infante AJ  Jones A  Mazzolari E  Muller SM  Pasic Srdjan S  Rechavi G  Sacco MG  Santagata S  Schroeder ML  Seger R  Strina D  Ugazio A  Valiaho J  Vihinen M  Vogler LB  Ochs H  Vezzoni P  Friedrich W  Schwarz K 
Info BLOOD, (2001), vol. 97 br. 1, str. 81-88
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains (Article)
Autori Santagata S  Gomez CA  Sobacchi Cristina  Bozzi F  Abinun Mario  Pasic Srdjan S  Cortes P  Vezzoni P  Villa A 
Info PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, (2000), vol. 97 br. 26, str. 14572-14577
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Prenatal diagnosis of RAG-deficient Omenn syndrome (Article)
Autori Villa A  Bozzi F  Sobacchi Cristina  Strina D  Fasth A  Pasic Srdjan S  Notarangelo LD  Vezzoni P 
Info PRENATAL DIAGNOSIS, (2000), vol. 20 br. 1, str. 56-59
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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