Discrepancies in reporting the CAG repeat lengths for Huntington's disease (Q24630307)

4

object named as

Christine Dumoulin

0 references

Anna Maria Romoli

1 reference

ORCID Public Data File 2021

Bernhard Landwehrmeyer

9

object named as

G Bernhard Landwehrmeyer

0 references

author name string

Oliver W Quarrell

1

0 references

Olivia Handley

2

0 references

Kirsty O'Donovan

3

0 references

Maria Ramos-Arroyo

5

0 references

Ida Biunno

6

0 references

Peter Bauer

7

0 references

Margaret Kline

European Journal of Human Genetics

8

0 references

language of work or name

English

0 references

publication date

January 2012

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published in

0 references

volume

20

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issue

1

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page(s)

20-6

0 references

cites work

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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7 April 2017

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A simple salting out procedure for extracting DNA from human nucleated cells

27 September 2017

1 reference

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Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234505

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234505

A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.136

A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.136

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.136

Laboratory Guidelines for Huntington Disease Genetic Testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.136

Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21811303

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21811303