Low level mosaicism detectable by DHPLC but not by direct sequencing

Human Mutation

Volumn 17, Issue 3, 2001, Pages 233-234

  Jones, Alistair C ^a   Sampson, Julian R ^a   Cheadle, Jeremy P ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CASE REPORT; DEVICE; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DNA DENATURATION; GENE MUTATION; GENE SEQUENCE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LETTER; MALE; MOLECULAR CLONING; MOSAICISM; MUTATION RATE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; TUBEROUS SCLEROSIS;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA; DNA MUTATIONAL ANALYSIS; HUMANS; MOSAICISM; PROTEINS; REPRESSOR PROTEINS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0035114679     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.8     Document Type: Letter

References (4)

1. DNA 2000: International symposium on the state-of-the-art in genetic analysis, June 1-3, Boston, Massachusetts
2. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis
3. Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis
4. High rate of mosaicism in tuberous sclerosis complex