High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE (Q81569442)

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9 January 2020

title

High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE (English)

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6

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Dominique Stoppa-Lyonnet

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object named as

Dominique Stoppa-Lyonnet

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3

Jérôme Champ

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Rachelle Looten

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object named as

Rachelle Looten

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Claude Houdayer

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Claude Houdayer

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9 January 2020

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author name string

Jérémie Weber

1

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Sandrine Miserere

2

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publication date

1 December 2007

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volume

28

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issue

23

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page(s)

4282-4288

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Canine hereditary ceroid-lipofuscinosis: evidence for a defect in the carnitine biosynthetic pathway

9 January 2020

cites work

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

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7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

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Amplicon melting analysis with labeled primers: a closed-tube method for differentiating homozygotes and heterozygotes

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7 January 2021

Genomic rearrangements in the BRCA1 and BRCA2 genes.

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Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

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7 January 2021

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

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7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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7 January 2021

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

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Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

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7 January 2021

Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.

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7 January 2021

A high-throughput mutation detection method based on heteroduplex analysis using graft copolymer matrixes: application to Brca1 and Brca2 analysis

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7 January 2021

Comb-like copolymers as self-coating, low-viscosity and high-resolution matrices for DNA sequencing

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7 January 2021

Purification of human genomic DNA from whole blood using sodium perchlorate in place of phenol

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7 January 2021

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method

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7 January 2021

Identifiers

DOI

10.1002/ELPS.200700010

1 reference

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9 January 2020

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