G378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency-Reference-Cited by-同舟云学术

G378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency

Published:2022-08-13 Issue:9 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Terlizzi Vito¹^ORCID,Centrone Claudia²,Botti Matteo³,Taccetti Giovanni¹

Affiliation:

1. Department of Paediatric Medicine Cystic Fibrosis Regional Reference Center Meyer Children's Hospital Florence Italy

2. Diagnostic Genetics Unit Careggi University Hospital Florence Italy

3. Tuscany Support Cystic Fibrosis Service, Department of Pediatrics Leghorn Hospital Leghorn Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2033

Reference9 articles.

1. Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T

2. Diagnostic testing for cystic fibrosis by MALDI‐TOF mass spectrometry: Identification of a CF patient with a G542X/3199del6 genotype;Buyse I. M.;American Journal of Human Genetics,2003

3. Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study

4. The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

5. Genotype‐phenotype correlation between the complex allele I148T‐3199del6 and cystic fibrosis;Ruchon A. F.;American Journal of Human Genetics,2003

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1. Cystic fibrosis transmembrane conductance regulator (CFTR) variants and CFTR function in patients with pancreatitis;Pancreatology;2024-09

2. The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy;International Journal of Molecular Sciences;2023-12-21

3. Description of the clinical picture and assessment of functional activity of the CFTR channel in a patient with a complex allele [S466X; R1070Q];PULMONOLOGIYA;2023-04-13