(Q50335624)

5 March 2018

https://api.crossref.org/works/10.1038/346366A0

title

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

1 reference

1 November 2022

0 references

0 references

Kazazian HH Jr

7

1 reference

5 March 2018

G. R. Cutting

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1695717

1 November 2022

L. M. Kasch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1695717

1 November 2022

B. J. Rosenstein

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1695717

1 November 2022

J. Zielenski

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1695717

1 November 2022

L. C. Tsui

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1695717

1 November 2022

S. E. Antonarakis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1695717

1 November 2022

H. H. Kazazian

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1695717

1 November 2022

language of work or name

English

0 references

publication date

1 July 1990

1 reference

5 March 2018

26 July 1990

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1695717

1 November 2022

number of pages

4

1 reference

full work available at URL

inferred from page(s)

http://www.nature.com/articles/346366a0

1 reference

https://api.crossref.org/works/10.1038/346366A0

http://www.nature.com/articles/346366a0.pdf

1 November 2022

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/346366A0

1 November 2022

1 reference

5 March 2018

volume

346

1 reference

5 March 2018

issue

6282

1 reference

5 March 2018

page(s)

366-369

1 reference

5 March 2018

Identification of the cystic fibrosis gene: chromosome walking and jumping

cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

7 January 2021

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis

1 reference

7 January 2021

Protein joins transport family

1 reference

7 January 2021

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

1 reference

7 January 2021

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

7 January 2021

A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis

1 reference

7 January 2021

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

7 January 2021

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

7 January 2021

DNA typing from single hairs

1 reference

7 January 2021

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

7 January 2021

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

1 reference

7 January 2021

Identifiers

DOI

10.1038/346366A0

1 reference

5 March 2018

Dimensions Publication ID

1005574691

0 references

1 reference

5 March 2018