The spectrum of cystic fibrosis mutations (Q35150488)

6 August 2017

title

The spectrum of cystic fibrosis mutations (English)

1 reference

6 August 2017

0 references

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https://api.crossref.org/works/10.1016/0168-9525(92)90301-J

20 November 2023

author name string

L. C. Tsui

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1279852

8 September 2022

publication date

1 November 1992

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https://api.elsevier.com/content/article/PII:016895259290301J?httpAccept=text/xml

6 August 2017

language of work or name

English

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based on heuristic

inferred from title

work available at URL

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https://api.crossref.org/works/10.1016/0168-9525(92)90301-J

https://api.elsevier.com/content/article/PII:016895259290301J?httpAccept=text/plain

20 November 2023

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https://api.crossref.org/works/10.1016/0168-9525(92)90301-J

20 November 2023

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6 August 2017

volume

8

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6 August 2017

issue

11

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6 August 2017

page(s)

392-398

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publication type of scholarly work

6 August 2017

review article

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Identification of the cystic fibrosis gene: chromosome walking and jumping

cites work

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

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Identification of the cystic fibrosis gene: genetic analysis

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Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

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Cystic fibrosis transmembrane conductance regulator: a chloride channel with novel regulation

20 November 2023

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Cystic fibrosis: molecular biology and therapeutic implications

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

20 November 2023

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

20 November 2023

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Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

20 November 2023

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

20 November 2023

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Nucleoside triphosphates are required to open the CFTR chloride channel.

20 November 2023

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

20 November 2023

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

20 November 2023

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Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

20 November 2023

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Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel

20 November 2023

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Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

20 November 2023

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Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

20 November 2023

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Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation

20 November 2023

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Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

20 November 2023

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Familial concordance of pancreatic function in cystic fibrosis

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

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

20 November 2023

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Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

20 November 2023

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

20 November 2023

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Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels

20 November 2023

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

20 November 2023

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

20 November 2023

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

20 November 2023

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A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

20 November 2023

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

20 November 2023

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An animal model for cystic fibrosis made by gene targeting

20 November 2023

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20 November 2023

Identifiers

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6 August 2017

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