Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment (Q41182021)

27 September 2017

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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PubMed ID

2016084

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

86

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27 September 2017

5

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27 September 2017

425-441

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

27 September 2017

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12 December 2020

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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

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12 December 2020

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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

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12 December 2020

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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

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12 December 2020

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

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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.

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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

1 reference

PubMed ID

2016084

Dimensions Publication ID

27 September 2017

0 references

1 reference

PubMed ID

2016084