Literature DB >> 12709378

Denaturing HPLC procedure for factor IX gene scanning.

Giuseppe Castaldo1, Paola Nardiello, Fabiana Bellitti, Angiola Rocino, Antonio Coppola, Giovanni di Minno, Francesco Salvatore.   

Abstract

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Year:  2003        PMID： 12709378     DOI： 10.1373/49.5.815

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  7 in total

1.  Clinical utility gene card for: haemophilia B.

Authors:  Peter Vincent Jenkins; Catriona Keenan; Steve Keeney; Tony Cumming; James S O'Donnell
Journal:  Eur J Hum Genet       Date:  2012-01-25       Impact factor: 4.246

2.  The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis.

Authors:  Giuseppe Tagariello; Donata Belvini; Roberta Salviato; Rosanna Di Gaetano; Daniela Zanotto; Paolo Radossi; Renzo Risato; Roberto Sartori; Cristina Tassinari
Journal:  Blood Transfus       Date:  2007-07       Impact factor: 3.443

3.  Haemophilia A: the consequences of de novo mutations. Two case reports.

Authors:  Federica Zarrilli; Antonio Coppola; Michele Schiavulli; Ernesto Cimino; Ausilia Elce; Giuseppe Rescigno; Giuseppe Castaldo; Felice Amato
Journal:  Blood Transfus       Date:  2017-04-05       Impact factor: 3.443

4.  High resolution melting for F9 gene mutation analysis in patients with haemophilia B.

Authors:  Roberta Salviato; Donata Belvini; Paolo Radossi; Giuseppe Tagariello
Journal:  Blood Transfus       Date:  2018-02-28       Impact factor: 3.443

5.  A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.

Authors:  Antonella Fuccio; Mariangela Iorio; Felice Amato; Ausilia Elce; Rosaria Ingino; Mirella Filocamo; Giuseppe Castaldo; Francesco Salvatore; Rossella Tomaiuolo
Journal:  J Mol Diagn       Date:  2011-08-30       Impact factor: 5.568

6.  Prenatal Diagnosis of Cystic Fibrosis and Hemophilia: Incidental Findings and Weak Points.

Authors:  Marika Comegna; Giuseppe Maria Maruotti; Laura Sarno; Gustavo Cernera; Monica Gelzo; Maurizio Guida; Fulvio Zullo; Federica Zarrilli; Giuseppe Castaldo
Journal:  Diagnostics (Basel)       Date:  2019-12-21

7.  Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

Authors:  Ravi Verma; Vineet Ahuja; Jaishree Paul
Journal:  BMC Med Genet       Date:  2009-09-01       Impact factor: 2.103
  7 in total

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