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3. Chromosomal instability in B-lymphoblasotoid cell lines from Werner”s and Bloom”s syndrome patien
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Two novel mutations on exon 8 and exon 65 of COL7A1 in two Chinese brothers result in recessive dyst
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Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful preg
BACKGROUND Identifying a potential single monogenetic disorder in healthy couples is costly due to the Assisted Reproduc......
Charcot-Marie-Tooth(CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for genetic diag......
Wilson’s disease(WD)is an autosomal recessive inherited disorder of hepatic copper metabolism.WD can be present in diff......
Associations of the decoy receptor and osteoprotegerin gene polymorphisms with ulcerative colitis in
Objective To investigate the correlation between decoy receptor(DcR)1,DcR2 and osteoprotegerin(OPG)gene polymorphisms wi......
Pulmonary alveolar microlithiasis(PAM)(MIM265100)is a rare disease characterized by the diffuse deposit of microlithiasi......
Albino mutants are useful genetic resource for studying chlorophyll biosynthesis and chloroplast development and cloning......
rhm1 is a major recessive disease resistance locus for Southern corn leaf blight (SCLB).To further narrow down its genet......
Lactose malabsorption (LM) is the incomplete hydrolysis of lactose due to lactase deficiency, which may occur as a prima......
Lesion mimic is necrotic lesions on plant leaf or stem in the absence of pathogenic infection,and its exact biological m......
Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by alteration of the adenosine triphos......
Cystic fibrosis, a common autosomal recessive genetic disorder among Caucasians, is caused by defects in the transmembra......
Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-perform
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder (1 in 6000 to 10 000 births) caused......
The form of Charcot-Marie-Tooth (CMT) neuropathy that maps to Xql3 is X-linked dominant, or X-linked intermediate. Hete......
Post-esophageal atresia anastomotic strictures and postcorrosive esophagitis are the most frequent types of cicatricial ......
Dear Editor,Childhood Disintegrative Disorder(CDD),also known as Heller’s syndrome and disintegrative psychosis,is a ra......
AIM:Recently,germ-line mutation in the base excisionrepair gene MYH has been identified to cause a novelautosomal reces......
ENPP1/PC-1 Gene K121Q Polymorphism Is Associated with Obesity in European Adult Populations: Evidenc
Objective Findings from the previous studies have suggested a relationship between ectonucleotide pyrophosphatase /phosp......
Arthrogryposis,renal dysfunction and cholestasis(ARC)syndrome(OMIM 208085)is an autosomal recessive disorder that is cau......
Congenital analbuminemia is a rare autosomic recessive inherited disorder characterized by low plasma albumin and hyperc......
Atrial fibrillation (AF) is the most common arrhythmia with multi-factorial pathogenesis. A number of studies of genetic......
With the financial support by the National Natural Science Foundation of China,Prof.Li Qintong’s laboratory at the Cent......
Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing er
Autosomal recessive cerebellar ataxias(ARCA) are a clinically and genetically heterogeneous group of rare neurodegenerat......
AIM: To collectively evaluate the association of intercellular adhesion molecule-1(ICAM-1) gene K469 E polymorphism(rs54......
Carbamoyl phosphate synthetase 1(CPS1) deficiency(CPS1D) is an inborn error of the urea cycle having autosomal(2q34) rec......
The pigmentation gene of Xenopus laevis is dominant and that of albino a~p mutant recessive. Hete-rologous haploid hybr......
Genetics polymorphisms and atrial fibrillation susceptibility: a systematic review and meta-analysis
Background Atrial fibrillation (AF) was used to be considered as nongenetics disorder, but recent studies have revealed ......
Conventional PCR methods combined with linkage analysis based on short tandem repeats(STRs) or Karyomapping with single ......
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to T
Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to pre......
Gitelman’s syndrome(GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC......
Cystic fibrosis(CF)is the most common autosomal recessive disease of the Caucasian population worldwide,with respiratory......
Papillon–Lefe`vre Syndrome is a rare autosomal recessive disorder characterized by rapidly progressive periodontitis an......
Relationship between glucokinase gene 6 tag single nucleotide polymorphism sites and type 2 diabetes
Objective To investigate the relationships between glucokinase(GCK)gene 6(tag single-nucleotide polymorphisms,tag SNPs)s......
Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willeb
The European Clinical Laboratory and Molecular(ECLM) criteria define 10 distinct Willebrand diseases(VWD) recessive typ......
Becker muscular dystrophy(BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac inv......
Epidemiological analysis on the incidence of thalassemia and G6PD deficiency in the population of ch
Objective:We investigated the incidence of thalassemia and glucose-6-phosphate dehydrogenase(G6PD)deficiency in people o......
Hemophilia A is an X-linked recessive disorder characterized by a deficiency of coagulation factor Ⅷ(FⅧ) and therefore......
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mo
Hermansky-Pudlak syndrome(HPS) is a recessive disorder with bleeding diathesis, which has been linked to platelet granul......
Genetic analysis and gene mapping of a rice few-tillering mutant in early backcross populations (Ory
A rice mutant, G069, characteristic of few tiller numbers, was found in anther culture progeny from the F1 hybrid betwee......
本文通过杂交初步分析一个起源于野生大豆的多小叶性状。五叶大豆与 6个正常大豆配制 6个杂交组合 ,其中 5个 F2 分离群体产生带有......
Green-revertible albino is a novel type of chlorophyll deficiency in rice(Oryza sativa L.), which is helpful for further......
Plants and viruses coexist in the natural ecosystem for extended periods of time,interacting with each other and even co......
Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft pal......
The tooth enamel development gene, enamelin(ENAM), showed evidence of positive selection during a genome-wide scan of hu......
Parkinson’s disease (PD) is a slowly progressive neurodegenerative disorder characterized clinically by bradykinesia, r......
Statistics show that an estimated 4.168 tons of added aluminum will be put to use within this year. Currently the produc......
Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to......
BACKGROUND: Primary dystonia is a heterogeneous disease, with a complex genetic basis. In previous studies, primary dyst......
