Testing for rare types of Hereditary Hemochromatosis. A genetic study of two Italian families affected by early onset iron overload-Reference-Cited by-同舟云学术

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Testing for rare types of Hereditary Hemochromatosis. A genetic study of two Italian families affected by early onset iron overload

Published:2023-03-22 Issue:5 Volume:45 Page:784-787
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int J Lab Hematology

Author:

Atanasio Alessandro¹²^ORCID,Bernabini Sara²³,Consagra Angela²,Giotti Irene²³,Carrai Valentina²,Pelo Elisabetta²³,Vannucchi Alessandro Maria¹²

Affiliation:

1. CRIMM, Centre of Research and Innovation in Myeloproliferative Neoplasms University of Florence Florence Italy

2. Department of Experimental and Clinical Medicine University of Florence Florence Italy

3. Genetic Diagnostic Unit Careggi University Hospital Florence Italy

Publisher

Wiley

Subject

Biochemistry (medical),Clinical Biochemistry,Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.14062

Reference7 articles.

1. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3. Ferroportin disease: A novel SLC40A1 mutation

4. Clinical, pathological, and molecular correlates in ferroportin disease: A study of two novel mutations

5. Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

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