A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation

Genetics in Medicine

Volumn 12, Issue 9, 2010, Pages 548-555

  Lucarelli, Marco ^a   Narzi, Lorena ^a   Pierandrei, Silvia ^a   Bruno, Sabina Maria ^a   Stamato, Antonella ^a   D'avanzo, Miriam ^a   Strom, Roberto ^a   Quattrucci, Serena ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

CFTR; complex alleles; cystic fibrosis; genotype phenotype relationship; mutational search

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CYSTIC FIBROSIS; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SCHOOL CHILD; SWEAT TEST;

ALLELES; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; GENOTYPE; HETEROZYGOTE; HUMANS; MUTATION; PHENOTYPE;

EID: 77957236342     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181ead634     Document Type: Article

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