Associated Papers
Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece.
Kontogianni G et al.
Cancers, 2018
29596374 (PubMed )
Supplement: cancers-10-00096-s001.zip › Table_S1.xlsx › S1
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M et al.
Human Mutation, 2017
Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.
Oca F et al.
Clinical Chemistry, 2009
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.
Girardet A et al.
Clinical Genetics, 2007
Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability.
Hämmerle MM et al.
The Journal of Biological Chemistry, 2001
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