TY  - GEN
AU  - Mota,Laís Ribeiro
AU  - de Melo Filho,Valmir Machado
AU  - de Castro,Lorena Lemos
AU  - Garcia,Daniel Fantozzi
AU  - Terse-Ramos,Regina
AU  - Toralles,Maria Betânia Pereira
AU  - de Lima,Renata Lúcia Leite Ferreira
AU  - Souza,Edna Lúcia
TI  - 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
SN  - 1573-4978
PY  - 2019///0424
KW  - Adolescent
KW  - Adult
KW  - Alleles
KW  - Brazil
KW  - Child
KW  - Child, Preschool
KW  - Cystic Fibrosis
KW  - genetics
KW  - Cystic Fibrosis Transmembrane Conductance Regulator
KW  - Female
KW  - Gene Frequency
KW  - Genetic Heterogeneity
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Genotype
KW  - High-Throughput Nucleotide Sequencing
KW  - methods
KW  - Humans
KW  - Male
KW  - Mutation
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s11033-018-4361-y
ER  -