Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene

Journal of Cystic Fibrosis

Volumn 11, Issue 4, 2012, Pages 344-348

  Poulou, Myrto ^a   Fylaktou, Irini ^a   Fotoulaki, Maria ^b   Kanavakis, Emmanuel ^a   Tzetis, Maria ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

CFTR; Clinical phenotype; Cystic fibrosis; In silico tools; Novel variants

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; COMPUTER ANALYSIS; CONTROLLED STUDY; CYSTIC FIBROSIS; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC COUNSELING; HUMAN; INTRONIC SUBSTITUTION; MISSENSE MUTATION; SYNONYMOUS MUTATION;

ADULT; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DATABASES, GENETIC; FEMALE; FRAMESHIFT MUTATION; GENETIC COUNSELING; GENETIC VARIATION; HUMANS; INTRONS; MALE; MUTATION, MISSENSE; PHENOTYPE;

EID: 84862495603     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2012.01.004     Document Type: Article

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