Paternal origin of a de novo novel CFTR mutation (l1065R) causing cystic fibrosis

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Casals, Teresa ^a   Ramos, Maria D ^a   Gimenez, Javier ^a   Nadal, Marga ^a   Nunes, Virginia ^a   Estivill, Xavier ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

CFTR; Cystic fibrosis; Paternal origin

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR DELTA F508; DNA; MICROSATELLITE DNA;

ALLELE; ARTICLE; CASE REPORT; CHILD; CYSTIC FIBROSIS; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; PATERNITY TEST; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; CHEMISTRY; EXON; FAMILY HEALTH; GENETICS; HETEROZYGOTE; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION;

AMINO ACID SUBSTITUTION; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; POINT MUTATION;

EID: 0031985669     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110133     Document Type: Article

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