التفاصيل البيبلوغرافية
العنوان:
Homozygous deletion of HFE: The Sardinian hemochromatosis?
المؤلفون:
Alberto Piperno , Cristina Arosio , Raffaella Mariani , Francesca Bertola , Sara Pelucchi
المساهمون:
Pelucchi, S, Mariani, R, Bertola, F, Arosio, C, Piperno, A
بيانات النشر:
W.B. Saunders, 2009.
سنة النشر:
2009
مصطلحات موضوعية:
Male , Proband , congenital, hereditary, and neonatal diseases and abnormalities , Genotype , Immunology , Mutation, Missense , medicine.disease_cause , Biochemistry , Humans , Medicine , Missense mutation , Hemochromatosis Protein , Hemochromatosis , Genetics , Mutation , business.industry , Histocompatibility Antigens Class I , Homozygote , Disease progression , Membrane Proteins , nutritional and metabolic diseases , Cell Biology , Hematology , Gene deletion , medicine.disease , Hemochromatosis, HFE, deletion, Sardinian , Pedigree , Phenotype , Disease Progression , Female , business , Gene Deletion
الوصف:
To the editor: Type 1 hemochromatosis is generally due to homozygous p.C282Y mutation in HFE .[1][1],[2][2] We report the case of a young woman with a classical hemochromatosis phenotype due to a homozygous deletion in the 6p chromosome region containing HFE . The proband is a 29-year-old woman of
اللغة:
English
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30dd4654befc2268cfdfb07963a409cdTest http://hdl.handle.net/10281/6042Test
حقوق:
CLOSED
رقم الانضمام:
edsair.doi.dedup.....30dd4654befc2268cfdfb07963a409cd
قاعدة البيانات:
OpenAIRE
