Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system

scientific article published on 01 November 2007

Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/HUMU.20558
P698PubMed publication ID17565723

P50authorLjubica CaldovicQ55755962
P2093author name stringMendel Tuchman
Steven F Dobrowolski
Clinton E Ellingson
P2860cites workMutations and polymorphisms in the human ornithine transcarbamylase gene.Q34109571
High-resolution genotyping by amplicon melting analysis using LCGreenQ34199727
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 geneQ45268163
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotypeQ45870212
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase geneQ47409258
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.Q48492547
Closed-tube SNP genotyping without labeled probes/a comparison between unlabeled probe and amplicon melting.Q54558130
Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis.Q54706020
Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational PolymorphismQ56225434
Structural organization of the human ornithine transcarbamylase geneQ67240665
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locusQ70659582
P433issue11
P304page(s)1133-1140
P577publication date2007-11-01
P1433published inHuman MutationQ5937269
P1476titleStreamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system
P478volume28

Reverse relations

cites work (P2860)
Q46011107A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
Q50600042Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments.
Q46127057Determination of mutation patterns in human ornithine transcarbamylase precursor
Q33967313High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene
Q37172861High resolution melting applications for clinical laboratory medicine
Q37500321High-resolution DNA melting analysis: advancements and limitations
Q50445859Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling
Q51501560Mitochondrial respiratory chain disorders in the Old Order Amish population.
Q34978956Newborn blood spot screening: new opportunities, old problems
Q35101814Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
Q33813874Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting
Q33813818Towards routine screening of rare genetic diseases: the example of chronic granulomatous disease