A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology-Reference-Cited by-同舟云学术

A Pilot C282Y Hemochromatosis Screening in Italian Newborns by TaqMan™ Technology

Published:2000-06-19 Issue:2 Volume:4 Page:177-181
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Restagno Gabriella¹,Gomez Ana Maria¹,Sbaiz Luca¹,De Gobbi Marco²,Roetto Antonella²,Bertino Enrico³,Fabris Claudio³,Fiorucci Giovanni Carlo¹,Fortina Paolo⁴,Camaschella Clara²

Affiliation:

1. Dipartimento di Patologia Clinica, Laboratorio di Genetica Molecolare, Ospedale Infantile Regina Margherita, Torino, Italy.

2. Departimento di Scienze Cliniche e Biologiche, Universitá di Torino School of Medicine, Orbassano, Italy.

3. Cattedra di Neonatologia, Universitá di Torino School of Medicine, Torino, Italy.

4. Department of Pediatrics, University of Pennsylvania School of Medicine and the Children's Hospital of Philadelphia, Philadelphia, PA 19104.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/10906570050114894

Reference25 articles.

1. Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis

2. Mutation Analysis in Hereditary Hemochromatosis

3. The significance of haemochromatosis gene mutations in the general population: implications for screening

4. Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders

5. Inherited HFE-unrelated hemochromatosis in italian families

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3. Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay;BMC Medical Genetics;2007-11-23

4. An open population screening study for HFE gene major mutations proves the low prevalence of C282Y mutation in Central Italy;Alimentary Pharmacology & Therapeutics;2007-06-09

5. PREVALENCE OF HFE MUTATIONS IN CALIFORNIA NEWBORNS;Pediatric Hematology and Oncology;2006-01