(Q57304756)

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Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

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20 October 2019

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes (English)

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Europe PubMed Central

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20 October 2019

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20 October 2019

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20 October 2019

Xavier Estivill i Pallejà

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20 October 2019

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T Casals

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20 October 2019

J Giménez

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20 October 2019

M D Ramos

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20 October 2019

A Palacio

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20 October 2019

V Nunes

8

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20 October 2019

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1 April 1994

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20 October 2019

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20 October 2019

93

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20 October 2019

4

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20 October 2019

447-451

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20 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00201673

0 references

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modification of enzymatically amplified DNA for the detection of point mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of 14 cystic fibrosis mutations in five South European populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Some red cell enzymes and haptoglobin gene frequencies in two Basque regions and León

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7513293

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00201673

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7513293%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7513293%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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