The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.
about
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferaseThe molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related familiesDirect sequencing of enzymatically amplified human genomic DNAThe polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14Alleles at the PRB3 locus coding for a disulfide-bonded human salivary proline-rich glycoprotein (Gl 8) and a null in an Ashkenazi JewArchaic African and Asian lineages in the genetic ancestry of modern humansMutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domainsCustomizing the genome as therapy for the β-hemoglobinopathiesDirect selection for mutations affecting specific splice sites in a hamster dihydrofolate reductase minigeneSingle missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2BIdentification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsinSplicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cellsHuman genomic sequences that inhibit splicing.Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin.Novel metabolism of several beta zero-thalassemic beta-globin mRNAs in the erythroid tissues of transgenic mice.Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.Advances in the prenatal diagnosis of sickle cell anemia.Molecular mechanism of retinoblastoma gene inactivation in retinoblastoma cell line Y79Prenatal diagnosis of the common haemoglobin disorders.Beta thalassaemia mutations in Turkish Cypriots.Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules.Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron.Analysis of two benzo[a]pyrene-resistant mutants of the mouse hepatoma Hepa-1 P(1)450 gene via cDNA expression in yeast.Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin geneMolecular evolution of the Escherichia coli chromosome. II. Clonal segments.Dominant maternal-effect mutations causing embryonic lethality in Caenorhabditis elegans.High prevalence of alpha- and beta-thalassemia in the Kadazandusuns in East Malaysia: challenges in providing effective health care for an indigenous group.Molecular studies of deletions at the human steroid sulfatase locus.An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three familiesThe specificity of UV-induced mutations at an endogenous locus in mammalian cells.Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in FinlandAcute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrateA distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathyMultiple origins for phenylketonuria in EuropeHomozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
P2860
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P2860
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.
description
1984 nî lūn-bûn
@nan
1984年の論文
@ja
1984年学术文章
@wuu
1984年学术文章
@zh-cn
1984年学术文章
@zh-hans
1984年学术文章
@zh-my
1984年学术文章
@zh-sg
1984年學術文章
@yue
1984年學術文章
@zh
1984年學術文章
@zh-hant
name
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.
@en
type
label
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.
@en
prefLabel
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.
@en
P1476
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.
@en
P2093
Kazazian HH Jr
P304
P356
10.1146/ANNUREV.GE.18.120184.001023
P577
1984-01-01T00:00:00Z