Identification of a novel mutation (C321X) in HJV.

Identification of a novel mutation (C321X) in HJV.

Item
http://www.wikidata.org/entity/Q47619236
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasisAllele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama populationHepcidin targets ferroportin for degradation in hepatocytes.Molecular diagnosis of hemochromatosis.Non-HFE haemochromatosis.The molecular genetics of haemochromatosis.The ins and outs of iron homeostasis.RETRACTED: The hepcidin-binding site on ferroportin is evolutionarily conservedIron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells.Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family.Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis.A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively
P2860

Identification of a novel mutation (C321X) in HJV.

Item
http://www.wikidata.org/entity/Q47619236
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh
2004年學術文章
@zh-hant
name
Identification of a novel mutation (C321X) in HJV.
@en
type
label
Identification of a novel mutation (C321X) in HJV.
@en
prefLabel
Identification of a novel mutation (C321X) in HJV.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Identification of a novel mutation (C321X) in HJV.
@en
P2093
P304
P31
P356
10.1182/BLOOD-2004-01-0400
P407
P433
P478
P50
P577
P5875
P698