Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories (Q58020445)

2

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Andrea Haworth

3

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Jeremy P. Cheadle

4

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A. Linda Meredith

5

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Anne Gardner

6

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I. Hilary Sawyer

7

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Margaret Connarty

8

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Nick Dennis

9

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Anneke Seller

10

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Ann Harris

11

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Rohan Taylor

12

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Simon Dear

13

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Helen Middleton-Price

14

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Cathie McMahon

15

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Ed Mayall

16

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Rob McMahon

17

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David E. Barton

18

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Martin Giles

19

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Victoria Lindley

20

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Davinder S. Plaha

21

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Susan Price

22

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Abid Sharif

23

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Gareth S. Cross

24

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Ann Dalton

25

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Graham Taylor

26

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Andrew Wallace

27

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Mayada Tassabehji

28

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Joanne L. Whittaker

29

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Rachel Butler

30

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Ann Curtis

31

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Ros Pinkett

32

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Annette J. Gilfillan

33

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David J. H. Brock

34

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G. Scott Higgins

35

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George Lanyon

36

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Zosia Miedzybrodzka

37

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Mark Davidson

38

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Colin A. Graham

39

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Alison J. M. Hill

Identification of 12 novel mutations in the CFTR gene

40

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publication date

1995

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published in

Human Mutation

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volume

6

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issue

4

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page(s)

326-333

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cites work

1 reference

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7 January 2021

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK

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7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

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https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

Identification of rare and novel mutations in the CFTR genes of CF patients in southern England

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060406

7 January 2021