Haemoglobin Constant Spring--a chain termination mutant?
about
Identification of two KH domain proteins in the alpha-globin mRNP stability complexbeta 0 thalassemia, a nonsense mutation in manNucleotide sequences of human globin messenger RNAHemoglobin variants: biochemical properties and clinical correlatesα-thalassaemiaThe molecular basis of alpha-thalassaemia in Thailand.Assembly of the alpha-globin mRNA stability complex reflects binary interaction between the pyrimidine-rich 3' untranslated region determinant and poly(C) binding protein alphaCPHematologic improvement following splenectomy for hemoglobin-H diseaseFrameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.The genetic control of protein synthesis: The haemoglobin modelImbalance in alpha and beta globin synthesis associated with a hemoglobinopathy.Locus assignment of alpha-globin structural mutations by hybrid-selected translationHemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia.A cell type-restricted mRNA surveillance pathway triggered by ribosome extension into the 3' untranslated region.Further evidence of a quantitative deficiency of chain-specific globin mRNA in the thalassemia syndromes.Hemoglobin Cranston, an unstable variant having an elongated beta chain due to nonhomologous crossover between two normal beta chain genes.Nucleotide sequences of the 3'-terminal untranslated region of messenger RNA for human beta globin chain.An RNA-protein complex links enhanced nuclear 3' processing with cytoplasmic mRNA stabilization.Studies on the structural abnormality of fibrinogen Paris IThe William Allan Memorial Award address: Thalassemia: molecular mechanism and detection.Is the doubly deleted alpha-thalassemia gene a "fugitive" allele?The thalassemias: molecular mechanisms of human genetic disease.Development of a somatic mutation screening system using Hb mutants. IV. Successful detection of red cells containing the human frameshift mutants Hb Wayne and Hb Cranston using monospecific fluorescent antibodiesHematologic and biosynthetic studies in homozygous hemoglobin Constant SpringAlpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlationAUF-1 and YB-1 independently regulate β-globin mRNA in developing erythroid cells through interactions with poly(A)-binding proteinHemoglobin Constant Spring (slow-moving hemoglobin X components) and hemoglobin e in Malayan aborigines.Hemoglobin Koya Dora: high frequency of a chain termination mutantMolecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.The 3' untranslated region complex involved in stabilization of human alpha-globin mRNA assembles in the nucleus and serves an independent role as a splice enhancerHemoglobin Constant Spring among Southeast Asian Populations: Haplotypic Heterogeneities and Phylogenetic Analysis.Hemoglobin Wayne: a frameshift mutation detected in human hemoglobin alpha chainsNucleotide sequence of 3' untranslated portion of human alpha globin mRNAErythroid cell-specific determinants of alpha-globin mRNA stability.DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia.Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemicsHemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia.Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.
P2860
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P2860
Haemoglobin Constant Spring--a chain termination mutant?
description
1971 nî lūn-bûn
@nan
1971年の論文
@ja
1971年学术文章
@wuu
1971年学术文章
@zh
1971年学术文章
@zh-cn
1971年学术文章
@zh-hans
1971年学术文章
@zh-my
1971年学术文章
@zh-sg
1971年學術文章
@yue
1971年學術文章
@zh-hant
name
Haemoglobin Constant Spring--a chain termination mutant?
@en
Haemoglobin Constant Spring--a chain termination mutant?
@nl
type
label
Haemoglobin Constant Spring--a chain termination mutant?
@en
Haemoglobin Constant Spring--a chain termination mutant?
@nl
prefLabel
Haemoglobin Constant Spring--a chain termination mutant?
@en
Haemoglobin Constant Spring--a chain termination mutant?
@nl
P2093
P356
P1433
P1476
Haemoglobin Constant Spring--a chain termination mutant?
@en
P2093
Weatherall DJ
P2888
P304
P356
10.1038/234337A0
P407
P577
1971-12-01T00:00:00Z
P6179
1045878412