Molecular basis and prenatal diagnosis of beta-thalassemia.
about
Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfismIdentification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG)Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiencyIdentification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiterDisease-associated mutations that alter the RNA structural ensembleInteraction-based evolution: how natural selection and nonrandom mutation work togetherHomozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA.Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema.Effect of excess alpha-hemoglobin chains on cellular and membrane oxidation in model beta-thalassemic erythrocytesTherapeutic effects of induced pluripotent stem cells in chimeric mice with β-thalassemia.Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis.Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes.Detection of specific DNA sequences by fluorescence amplification: a color complementation assay.Beta-thalassemia mutations in Indonesia and their linkage to beta haplotypes.Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening programAlpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exonsAnalysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.Both TALENs and CRISPR/Cas9 directly target the HBB IVS2-654 (C > T) mutation in β-thalassemia-derived iPSCsEvolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.The thalassemia syndromes: lessons from molecular medicines index case.A novel frameshift mutation causing beta-thalassaemia in Azerbaijan.Detection of beta-thalassemia using an artificial-restriction fragment length polymorphism generated by the polymerase chain reaction.Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes.The Prevalence Of β-Thalassemia Mutations in South Western Maharashtra.Heterozygotes and homozygotes: discrimination by chemical cleavage of mismatch.
P2860
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P2860
Molecular basis and prenatal diagnosis of beta-thalassemia.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
Molecular basis and prenatal diagnosis of beta-thalassemia.
@en
Molecular basis and prenatal diagnosis of beta-thalassemia.
@nl
type
label
Molecular basis and prenatal diagnosis of beta-thalassemia.
@en
Molecular basis and prenatal diagnosis of beta-thalassemia.
@nl
prefLabel
Molecular basis and prenatal diagnosis of beta-thalassemia.
@en
Molecular basis and prenatal diagnosis of beta-thalassemia.
@nl
P1433
P1476
Molecular basis and prenatal diagnosis of beta-thalassemia.
@en
P2093
Kazazian HH Jr
P304
P407
P577
1988-10-01T00:00:00Z