(Q39994456)

16 September 2017

title

Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T). (English)

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16 September 2017

Neng Chen

1

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16 September 2017

Iris Schrijver

series ordinal

2

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16 September 2017

language of work or name

English

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publication date

1 December 2011

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16 September 2017

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16 September 2017

volume

13

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16 September 2017

issue

12

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16 September 2017

page(s)

1025-1031

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The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.

16 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Nanoliter scale PCR with TaqMan detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Functional study of GJB2 in hereditary hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

HDAC inhibition and graft versus host disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Non-invasive prenatal diagnosis by single molecule counting technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

Evaluation of digital PCR for absolute DNA quantification

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182272E0B

10.1097/GIM.0B013E3182272E0B

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

16 September 2017

1009742247

0 references

1 reference