Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis

Human Molecular Genetics

Volumn 6, Issue 13, 1997, Pages 2265-2269

  Yates, John R W ^a,b   Van Bakel, Inge ^a,b,e   Sepp, Tiina ^a,b   Payne, Stewart J ^b,f   Webb, David W ^c   Nevin, Norman C ^d   Green, Andrew J ^a,g  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d BELFAST CITY HOSPITAL   (United Kingdom)

^e Cambridge Science Park   (United Kingdom)

^f St Mark's NHS Trust   (United Kingdom)

^g UNIVERSITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA;

ADULT; AGED; ARTICLE; CASE REPORT; CHROMOSOME MOSAICISM; DNA POLYMORPHISM; EXON; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC MARKER; GERM CELL; HAPLOTYPE; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; NORMAL HUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; TUBEROUS SCLEROSIS;

EID: 0030772273     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.13.2265     Document Type: Article

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