(Q41182021)

27 September 2017

title

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment (English)

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27 September 2017

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2

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27 September 2017

M Krawczak

1

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27 September 2017

language of work or name

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1 March 1991

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27 September 2017

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27 September 2017

volume

86

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27 September 2017

issue

5

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27 September 2017

page(s)

425-441

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https://scigraph.springernature.com/pub.10.1007/bf00194629

27 September 2017

exact match

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Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia

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Molecular pathology of haemophilia B

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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

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Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

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Homologous recombination between the LTRs of a human retrovirus-like element causes a 5-kb deletion in two siblings

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Molecular evidence for compound heterozygosity in hereditary fructose intolerance

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beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene

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mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.

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A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase

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Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

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12 December 2020

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene

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12 December 2020

Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion

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12 December 2020

A single base-pair deletion in the protein C gene causing recurrent thromboembolism

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12 December 2020

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients

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12 December 2020

Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift

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12 December 2020

The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene

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12 December 2020

Mutation in an intervening sequence splice junction in man

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12 December 2020

An analysis of sequence repeats in the lacI gene of Escherichia coli

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12 December 2020

Molecular characterization of human factor XSan Antonio

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12 December 2020

Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia

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12 December 2020

Structural analysis of a beta-thalassemia gene found in Taiwan

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12 December 2020

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease

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12 December 2020

Molecular basis of human growth hormone gene deletions

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12 December 2020

Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.

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12 December 2020

A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II

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12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

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12 December 2020

Fidelity of DNA polymerase I and the DNA polymerase I-DNA primase complex from Saccharomyces cerevisiae

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12 December 2020

Molecular basis of spontaneous mutation at the aprt locus of hamster cells

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12 December 2020

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

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12 December 2020

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia

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12 December 2020

The Minimum Amount of Homology Required for Homologous Recombination in Mammalian Cells

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12 December 2020

Structural intermediates of deletion mutagenesis: a role for palindromic DNA

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12 December 2020

A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto).

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12 December 2020

Spectrum of spontaneous mutation at the APRT locus of Chinese hamster ovary cells: an analysis at the DNA sequence level

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12 December 2020

Copy choice illegitimate DNA recombination

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12 December 2020

Short Direct Repeats Mediate Spontaneous High-Frequency Deletions in DNA of Minute Virus of Mice

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12 December 2020

Frameshift codon 5 [Fsc-5 (-CT)] thalassemia; a novel mutation detected in a Greek patient

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12 December 2020

Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon

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12 December 2020

A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum

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12 December 2020

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

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12 December 2020

Misalignment-mediated DNA synthesis errors

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12 December 2020

Frameshift 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.

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12 December 2020

Specific sequences in native DNA that arrest synthesis by DNA polymerase alpha

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12 December 2020

A new acute transforming feline retrovirus and relationship of its oncogene v-kit with the protein kinase gene family.

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12 December 2020

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

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12 December 2020

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

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12 December 2020

The molecular basis of mutations induced by deoxyribonucleoside triphosphate pool imbalances in mammalian cells

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12 December 2020

On the formation of spontaneous deletions: The importance of short sequence homologies in the generation of large deletions

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12 December 2020

Spontaneous deletion formation at the aprt locus of hamster cells: the presence of short sequence homologies and dyad symmetries at deletion termini

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12 December 2020

Nonhomologous recombination in mammalian cells: role for short sequence homologies in the joining reaction

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12 December 2020

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

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12 December 2020

Deletion formation in bacteriophage T4.

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12 December 2020

Beta-thalassemia gene analysis in a Turkish family reveals a 7 BP deletion in the coding region

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12 December 2020

Nonhomologous recombination in the parvovirus chromosome: role for a CTATTTCT motif

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12 December 2020

Z-DNA-forming sequences are spontaneous deletion hot spots

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12 December 2020

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)

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12 December 2020

Four base-pair DNA deletion in human A gamma globin-gene promoter associated with low A gamma expression in adults

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12 December 2020

Clustered illegitimate recombination events in mammalian cells involving very short sequence homologies

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12 December 2020

Molecular aspects of heavy-chain class switching

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12 December 2020

Polymerase-specific differences in the DNA intermediates of frameshift mutagenesis. In vitro synthesis errors of Escherichia coli DNA polymerase I and its large fragment derivative

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12 December 2020

Mechanisms of spontaneous mutagenesis: an analysis of the spectrum of spontaneous mutation in the Escherichia coli lacI gene.

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12 December 2020

The mutational specificity of DNA polymerase-beta during in vitro DNA synthesis. Production of frameshift, base substitution, and deletion mutations.

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12 December 2020

Base substitutions, frameshifts, and small deletions constitute ionizing radiation-induced point mutations in mammalian cells

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12 December 2020

The base substitution fidelity of eucaryotic DNA polymerases. Mispairing frequencies, site preferences, insertion preferences, and base substitution by dislocation

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12 December 2020

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements

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12 December 2020

A gene deletion ending within a complex array of repeated sequences 3' to the human beta-globin gene cluster

1 reference

12 December 2020

DNA sequence analysis of spontaneous mutations at the aprt locus of hamster cells

1 reference

12 December 2020

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

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12 December 2020

Characterization of beta-thalassemia mutations among the Japanese

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12 December 2020

Sequence analysis of spontaneous mutations in a shuttle vector gene integrated into mammalian chromosomal DNA

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12 December 2020

Spectrum of spontaneous mutations in a cDNA of the human hprt gene integrated in chromosomal DNA

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12 December 2020

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints.

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12 December 2020

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

1 reference

12 December 2020

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

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12 December 2020

Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy

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12 December 2020

The mutational specificity of DNA polymerases-alpha and -gamma during in vitro DNA synthesis

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12 December 2020

Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton

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12 December 2020

Molecular analysis of aldolase B genes in hereditary fructose intolerance

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12 December 2020

Identifiers

DOI

10.1007/BF00194629

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Dimensions Publication ID

27 September 2017

1049647729

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