Title: An Algerian child homozygous for the M470V polymorphism and for a deletion of two nucleotides in exon 10 of the CFTR gene, shows severe cystic fibrosis symptoms
Authors: Loumi, O ×
Cuppens, Harry
Bakour, R
Benabadji, M
Baghriche, M
Marynen, Peter
Cassiman, Jean-Jacques #
Issue Date: 1992
Series Title: Genetic Counseling vol:3 issue:4 pages:205-7
Abstract: When screening for the presence of major cystic fibrosis mutations in Algerian cystic fibrosis families by heteroduplex formation, aberrant heteroduplexes were observed for exon 10 in one family. Here we describe the clinical and molecular findings in a severely affected child of this family, homozygous for the 1609delCA and for the M470V polymorphism.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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