A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del-Reference-Cited by-同舟云学术

A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del

Published:2020-05 Issue:5 Volume:63 Page:103874
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Dabboubi Rym,Amri Yessine,Yahyaoui Salem,Mahjoub Rahma,Sahli Chayma Abdelhafidh,Sahli Chaima,Hadj Fredj Sondess,Bibi Amina,Sammoud Azza,Messaoud Taieb

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference18 articles.

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3. Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications;Athiyarath;Br. J. Haematol.,2013

4. Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling humanatransferrinemia;Bernstein;J. Lab. Clin. Med.,1987

5. Molecular characterizationof a case of atransferrinemia;Beutler;Blood,2000

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