(Q54142390)

25 May 2018

title

A novel CFTR mutation, 4035delA, detected by non-radioactive SSCP analysis (English)

1 reference

22 November 2023

1 reference

22 November 2023

J. Reiss

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1283151

22 November 2023

U. Lenz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1283151

22 November 2023

F. Rininsland

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1283151

22 November 2023

P. Ballhausen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1283151

22 November 2023

D. Drews

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1283151

22 November 2023

H. G. Posselt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1283151

22 November 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1283151

22 November 2023

publication date

1 November 1992

1 reference

25 May 2018

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00220085.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00220085/fulltext.html

22 November 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00220085

22 November 2023

1 reference

22 November 2023

1 reference

25 May 2018

volume

1 reference

25 May 2018

issue

1 reference

25 May 2018

page(s)

303-304

1 reference

25 May 2018

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

12 December 2020

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

12 December 2020

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

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

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

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

Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria

1 reference

12 December 2020

Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-?F508 mutations in German cystic fibrosis patients

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

Identifiers

DOI

10.1007/BF00220085

1 reference

25 May 2018

1 reference

25 May 2018