Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: Consequences for genetic testing using standard assays

European Journal of Human Genetics

Volumn 13, Issue 2, 2005, Pages 136-138

  Viel, Marion ^a   Leroy, Chrystel ^a   Des Georges, Marie ^b   Claustres, Mireille ^b   Bienvenu, Thierry ^a  

^a Hôpital Cochin ^*  (France)

^b UNIV MONTPELLIER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ETHIDIUM BROMIDE; OLIGONUCLEOTIDE; POLYPYRIMIDINE TRACT BINDING PROTEIN; THYMIDINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; BIOASSAY; CAPILLARY ZONE ELECTROPHORESIS; CYSTIC FIBROSIS; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SPLICING; EXON; FLUORESCENCE ANALYSIS; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYBRIDIZATION; INTRACYTOPLASMIC SPERM INJECTION; INTRON; MALE; MALE GENITAL TRACT MALFORMATION; MALE INFERTILITY; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; VAS DEFERENS AGENESIS;

ALLELES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; GENOTYPE; HETEROZYGOTE; HUMANS; INTRONS; MUTATION; RNA SPLICING;

EID: 13544270236     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201261     Document Type: Article

References (21)

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