Molecular diagnosis of neurofibromatosis type 1: 2 Years experience

Familial Cancer

Volumn 6, Issue 1, 2007, Pages 21-34

  Griffiths, Siân ^a   Thompson, Peter ^a   Frayling, Ian ^a   Upadhyaya, Meena ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

Denaturing High Performance Liquid Chromatography (dHPLC); Fluorescence In Situ Hybridisation (FISH); Multiplex Ligation Dependent Probe Amplification (MLPA); Mutation; Neurofibromatosis Type 1 (NF1); Polymerase chain reaction (PCR); Polymorphism

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MEDICAL TECHNOLOGY; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; PRIORITY JOURNAL; RNA SPLICING; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS;

ALTERNATIVE SPLICING; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HETERODUPLEX ANALYSIS; HUMANS; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; NUCLEIC ACID DENATURATION; POLYMORPHISM, GENETIC; RNA SPLICE SITES;

EID: 33847112447     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-006-9001-3     Document Type: Article

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