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- HFE H63D gene mutation - Wikipedia
HFE The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c 187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p His63Asp) HFE participates in the regulation of iron absorption [1][2][3] Homozygous H63D variant can occasionally be the cause of hemochromatosis It is also associated with the
- H63D: The Other Mutation - Iron Disorders
Being a carrier of the H63D hemochromatosis mutation is a risk factor for ear-lier onset and longer duration of kidney disease in type II diabetic patients Alcoholic liver disease is more prominent in the H63D homo-zygote
- Hereditary Hemochromatosis: Rapid Evidence Review - AAFP
There are four types of hereditary hemochromatosis, which are categorized by the specific gene mutation involved (Table 1) 1, 5, 6 Homozygous C282Y and heterozygous C282Y H63D mutations of the
- Hereditary Hemochromatosis in an Adult Due to H63D Mutation . . .
Hereditary Hemochromatosis in an Adult Due to H63D Mutation: The Value of Estimating Iron Deposition By MRI T2* and Dissociation Between Serum Ferritin Concentration and Hepatic Iron Overload
- Iron overload is rare in patients homozygous for the H63D . . .
Hereditary hemochromatosis is characterized by increased iron absorption and tissue deposition, and is one of the most common inherited conditions among individuals of Northern European descent Two particular mutations in the HFE gene have been
- Genetic haemochromatosis h63d homozygous
An explanation of h63d homozygosity for people who are homozygous for h63d variant of genetic haemochromatosis
- S3530 Homozygous H63D Mutation in Hereditary Hemochromatosis
INTRODUCTION: Hereditary Hemochromatosis (HH) is a common genetic disorder caused by reduced iron regulatory hormone, hepcidin, or the hepcidin–ferroportin binding protein leading to unchecked iron absorption and systemic iron overload HFE gene mutation results in Type 1 HH and is usually associated with homozygous C282Y mutation, or C282Y and H63D heterozygosity Homozygous H63D mutations
- Hemochromatosis (HFE) 3 Variants | Test Fact Sheet
Hereditary hemochromatosis (HH) is a common genetic disorder that is most prevalent in adult males of northern European descent The most common form of adult HH has been linked to variants (C282Y, H63D, and S65C) of the HFE gene, which codes for a protein responsible for iron regulation Allele frequency varies by ethnicity
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