Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.
about
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyriaOrnithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase geneMolecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the diseaseHypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene.Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysisHot spot mutations in adenosine deaminase deficiency.Haemophilia A and haemophilia B: molecular insightsMutations in the CHD7 gene: the experience of a commercial laboratoryAchondroplasia is defined by recurrent G380R mutations of FGFR3Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutationMolecular analysis of hemophilia A mutations in the Finnish populationFamilial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia BMolecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.The spectrum of RB1 germ-line mutations in hereditary retinoblastomaCharacterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.Sequence conservation in Alu evolution.Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII geneFunctionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A.Haemophilia A and haemophilia B: molecular insights.
P2860
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P2860
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.
description
1988 nî lūn-bûn
@nan
1988 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի մայիսին հրատարակված գիտական հոդված
@hy
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
name
Nonsense and missense mutation ...... tion rate at CG dinucleotides.
@ast
Nonsense and missense mutation ...... tion rate at CG dinucleotides.
@en
type
label
Nonsense and missense mutation ...... tion rate at CG dinucleotides.
@ast
Nonsense and missense mutation ...... tion rate at CG dinucleotides.
@en
prefLabel
Nonsense and missense mutation ...... tion rate at CG dinucleotides.
@ast
Nonsense and missense mutation ...... tion rate at CG dinucleotides.
@en
P2093
P2860
P1476
Nonsense and missense mutation ...... tion rate at CG dinucleotides.
@en
P2093
Antonarakis SE
Griffin AM
Kazazian HH Jr
Youssoufian H
P2860
P304
P407
P577
1988-05-01T00:00:00Z