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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...
Angioid streaks (AS) are hereditary eye conditions caused by breaks in the elastic layer of Bruch's membrane. Patients with AS are also frequently affected with pseudoxanthoma elasticum (PXE). The l...
Genotype-Phenotype Analysis of Mutation R778L in the ATP7B Gene
genotype-phenotype mutation ATP7B Wilson’s disease
2009/4/1
Wilson’s disease (WD), an autosomal recessive disorder of copper transport, usually presents with symptoms of the liver or central nervous system. The known disease-caused mutations identified in the ...
提高产抗生素链霉菌紫外诱变正变率的研究Studies of Increasing the Forward-mutation Rate ofUV Irradiated Streptomyces sp. AP 19―1, an Antibiotics Producing Strain
紫外诱变 链霉菌 正突变体 RAPD
2008/1/8
摘要
将UV诱变了的产抗生素链霉菌（Streptomyces sp.）AP 19-1菌株之孢子，置于适宜的生长温度27℃与接近抑制生长的胁迫温度33℃下培养，结果表明：在33℃下生长获得的子代菌株中，产抗生素水平超过其出发菌株的正向突变体所占的比例，明显比在27℃下培养的高。27℃下培养，正向突变体占总子代菌株数的25.8%，而在33℃下培养则为58.1%。用17种随机引物对出发菌株与UV诱变...
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...