Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations-Reference-Cited by-同舟云学术

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Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations

Published:2000-03-19 Issue:1 Volume:4 Page:69-74
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Bernardino A. L. F.¹,Ferri A.¹,Passos-Bueno M. R.¹,Kim C. E. A.²,Nakaie C. M. A.²,Gomes C. E. T.³,Damaceno N.⁴,Zatz M.¹

Affiliation:

1. Centro de Estudos do Genoma Humano, Departamento de Biologia, Universidade de São Paulo.

2. Institudo da Criança, Faculdade de Medicina, Universidade de São Paulo, Brazil.

3. Departamento de Pneumologia, Escola, Paulista de Medicina, UNIFESP, São Paolo, Brazil.

4. Departamento de Pediatria, Santa Casa de Misericórdia, São Paulo, Brazil.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/109065700316516

Reference27 articles.

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

2. Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales

3. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

4. CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France

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1. Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction;International Journal of Molecular Sciences;2023-02-06

2. Analysis Variants of the CFTR Gene in Iranian Cystic Fibrosis Patients;Journal of Human Genetics and Genomics;2022-04-20

3. Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?;Journal of Assisted Reproduction and Genetics;2022-01-29

4. Carriers of cystic fibrosis among sperm donors: complete CFTR gene analysis versus CFTR genotyping;Fertility and Sterility;2020-09

5. Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population;Molecular Genetics & Genomic Medicine;2019-06-14

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