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Fruit Fly Muscles With A Hypertrophic Cardiomyopathy Mutation Don’t Relax Properly（图）
Fruit Fly Muscles Hypertrophic Cardiomyopathy Mutation Don’t Relax Properly
2017/10/25
Using fruit flies, Johns Hopkins researchers have figured out why a particular inherited human heart condition that is almost always due to genetic mutations causes the heart to enlarge, thicken and f...
First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
Gene Deletion Phenylalanine Hydroxylase Phenylketonuria
2016/1/26
Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations a...
Prevalence of the HFE Gene Mutation in the Liver Trans-planted and Primary Hemochromatosis Patients in the Southern Iran
HFE gene Hemochromatosis Liver transplant
2015/9/22
Background: Primary hemochromatosis is an inherited disorder. Mutation in this gene is accompanied with iron overload in the body leading to organ failure that primarily affects liver. Individuals wi...
PREVALENCE OF MT DNA MUTATION IN TYPE II DIABETES MELLITUS
Diabetes Mellitus Type II Mitochondria mt DNA A3243G 5kb
2009/12/31
Background: Mitochondria is one of the intracellular organelle with specific DNA. Some diseases caused by mtDNA mutations have been reported up to now. Mutation of A3243G and deletion of 5kb are two o...
Is MEFVGene Arg202Gln (605 G>A) A Disease-Causing Mutation?
Familial Mediterranean fever (FMF) amyloidosis MEFVgene R202Q
2009/6/16
Aim: Familial Mediterranean fever (FMF) is an autosomal recessive disease. Arg202Gln was reported as a frequent polymorphism, and G allele of the mutation was in linkage disequilibrium with M694V. Thu...
CYBB Gene Mutation Detection in an Iranian Patient with Chronic Granulomatous Disease
Chronic Granulomatous Disease CYBB Protein Human Gene
2010/1/29
In this study, we report a mutation in CYBB gene in a patient with X-CGD (diagnosed on the base of family history, NDT test, DHR 123 assay). Mutation in CYBB gene was detected using SSCP analysis (sin...