(Q57304614)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1380943%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

title

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1380943%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference

Christopher G. Mathew

C. Mathew

19

0 references

Giuseppe Novelli

G. Novelli

Xavier Estivill i Pallejà

13

0 references

X. Estivill

35

0 references

Bruno Dallapiccola

B. Dallapiccola

39

0 references

Thilo Dörk

5

T Dörk

1 reference

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14 September 2019

author name string

L Osborne

1

1 reference

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14 September 2019

G Santis

2

1 reference

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14 September 2019

M Schwarz

3

1 reference

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14 September 2019

K Klinger

4

1 reference

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14 September 2019

I McIntosh

6

1 reference

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14 September 2019

M Schwartz

7

1 reference

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14 September 2019

V Nunes

8

1 reference

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14 September 2019

M Macek

9

1 reference

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14 September 2019

J Reiss

10

1 reference

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14 September 2019

publication date

1 August 1992

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14 September 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1380943%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

volume

89

1 reference

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14 September 2019

issue

6

1 reference

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14 September 2019

page(s)

653-658

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00221957

14 September 2019

exact match

0 references

cites work

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

1 reference

12 December 2020

A frame-shift mutation in the cystic fibrosis gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)1

1 reference

12 December 2020

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

1 reference

12 December 2020

Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis

1 reference

12 December 2020

Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site

1 reference

12 December 2020

Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2

1 reference

12 December 2020

Linked marker haplotypes and the delta F508 mutation in adults with mild pulmonary disease and cystic fibrosis

1 reference

12 December 2020

Two frameshift mutations in the cystic fibrosis gene.

1 reference

12 December 2020

Methods for analysis of multiple cystic fibrosis mutations

1 reference

12 December 2020

Identification of the cystic fibrosis gene: genetic analysis

1 reference

12 December 2020

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death

1 reference

12 December 2020

A 3' splice site consensus sequence mutation in the cystic fibrosis gene

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00221957

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1380943%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference