P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. (Q33680182)

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10 November 2019

title

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population (English)

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10 November 2019

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Jonathan Peter Warner

2

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10 November 2019

author name string

A Gilfillan

1

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10 November 2019

J M Kirk

3

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10 November 2019

T Marshall

4

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10 November 2019

A Greening

5

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10 November 2019

L P Ho

6

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10 November 2019

T Hargreave

7

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10 November 2019

B Stack

8

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10 November 2019

D McIntyre

9

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R Davidson

10

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10 November 2019

J C Dean

11

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W Middleton

12

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D J Brock

13

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10 November 2019

language of work or name

English

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publication date

1 February 1998

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Journal of Medical Genetics

10 November 2019

published in

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volume

35

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10 November 2019

issue

2

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10 November 2019

page(s)

122-125

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Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes

10 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

The molecular basis for disease variability in cystic fibrosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

A 22-bp deletion in the coding region of the cystic fibrosis gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051215

Cystic-fibrosis screening in the newborn

21 June 2018

1 reference

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Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

21 June 2018

1 reference

12 December 2020

Variation of sweat sodium and chloride with age in cystic fibrosis and normal populations: further investigations in equivocal cases

1 reference

12 December 2020

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

12 December 2020

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

12 December 2020

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

12 December 2020

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

1 reference

12 December 2020

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

12 December 2020

A Single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.2.122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9507391%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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10 November 2019

PubMed publication ID

9507391

1 reference