Detection of unknown mutations in DNA: a catch-22

Chemical cleavage of heteroduplex DNA to identify mutations.

Current protocols in human genetics·2008

Mutation detection 2001: Sixth International Symposium on Mutations in the Human Genome, May 3-7, 2001, Bled, Slovenia.

Human mutation·2001

10th International Hugo mutation database initiative meeting, 19 April 2001, Edinburgh, Scotland.

Human mutation·2001

Go!Poly: A gene-oriented polymorphism database.

Human mutation·2001

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.

Kidney international·2001

Functional analysis, using in vitro mutagenesis, of amino acids located in the phenylalanine hydroxylase active site.

Archives of biochemistry and biophysics·2001

Systematic and proactive evaluation of AIRE missense variant effects.

American journal of human genetics·2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cell villages and Dirichlet modeling map human cell fitness genetics.

American journal of human genetics·2026

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

American journal of human genetics·2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

American journal of human genetics·2026

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

American journal of human genetics·2026

Photoinduced radical Truce-Smiles rearrangement driven by halogen bond interactions.

Organic & biomolecular chemistry·2026

Continuous flow electrochemical oxidation of activated methylarenes using O2.

Organic & biomolecular chemistry·2026

Alkyl bromide-promoted photo-methylation of benzaldehydes with DMSO as the methyl source.

Organic & biomolecular chemistry·2026

GRX2-Mediated Deglutathionylation of SIRT3 Alleviates Intestinal Ischemia/Reperfusion-Induced Mitochondrial Oxidative Damage.

Antioxidants & redox signaling·2026

Gain-of-function mutation of type 2 ryanodine receptor attenuates dopaminergic neuron development associated with Ca2+ overload-triggered oxidative damage in mitochondria.

Biochemical and biophysical research communications·2026

Palladium chloride-induced testicular damage in rats: Histopathology, oxidative stress, ER stress, and Nrf2/HO-1 signaling and the protective role of quercetin.

Tissue & cell·2026

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Detection of unknown mutations in DNA: a catch-22

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Chemical cleavage of heteroduplex DNA to identify mutations.

Mutation detection 2001: Sixth International Symposium on Mutations in the Human Genome, May 3-7, 2001, Bled, Slovenia.

10th International Hugo mutation database initiative meeting, 19 April 2001, Edinburgh, Scotland.

Go!Poly: A gene-oriented polymorphism database.

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.

Functional analysis, using in vitro mutagenesis, of amino acids located in the phenylalanine hydroxylase active site.

Systematic and proactive evaluation of AIRE missense variant effects.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cell villages and Dirichlet modeling map human cell fitness genetics.

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

Photoinduced radical Truce-Smiles rearrangement driven by halogen bond interactions.

Continuous flow electrochemical oxidation of activated methylarenes using O2.

Alkyl bromide-promoted photo-methylation of benzaldehydes with DMSO as the methyl source.

GRX2-Mediated Deglutathionylation of SIRT3 Alleviates Intestinal Ischemia/Reperfusion-Induced Mitochondrial Oxidative Damage.

Gain-of-function mutation of type 2 ryanodine receptor attenuates dopaminergic neuron development associated with Ca2+ overload-triggered oxidative damage in mitochondria.

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