Mota, Laís Ribeiro

Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State. [electronic resource] - Molecular biology reports Dec 2018 - 2045-2051 p. digital

Publication Type: Case Reports; Journal Article

1573-4978

10.1007/s11033-018-4361-y doi


Adolescent
Adult
Alleles
Brazil
Child
Child, Preschool
Cystic Fibrosis--genetics
Cystic Fibrosis Transmembrane Conductance Regulator--genetics
Female
Gene Frequency--genetics
Genetic Heterogeneity
Genetic Predisposition to Disease--genetics
Genetic Testing
Genotype
High-Throughput Nucleotide Sequencing--methods
Humans
Male
Mutation