Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

Human Mutation

Volumn 26, Issue 4, 2005, Pages 374-383

  Rendtorff, Nanna D ^a,d   Bjerregaard, Bolette ^a   Frödin, Morten ^b   Kjaergaard, Susanne ^a   Hove, Hanne ^c   Skovby, Fleniming ^c   Brøndum Nielsen, Karen ^a   Schwartz, Marianne ^c  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c Rigshospitalet   (Denmark)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Danish; DGGE; MLPA; Mutation screening; TSC1; TSC2

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; AUTOSOMAL DOMINANT DISORDER; CHILD; COST EFFECTIVENESS ANALYSIS; DISEASE SEVERITY; EPILEPSY; GENE DELETION; GENE INACTIVATION; GENE MUTATION; GENE SEQUENCE; HAMARTOMA; HEART FAILURE; HUMAN; INTELLECTUAL IMPAIRMENT; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; TIME; TSC1 GENE; TSC2 GENE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 25444468843     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20227     Document Type: Article

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