Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex [Human Mutation 34, 1 168-176] DOI 10.1002/humu.22202;Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Human Mutation

Volumn 34, Issue 1, 2013, Pages 167-175

  Hoogeveen Westerveld, Marianne ^a   Ekong, Rosemary ^b   Povey, Sue ^b   Mayer, Karin ^c   Lannoy, Nathalie ^d   Elmslie, Frances ^e   Bebin, Martina ^f   Dies, Kira ^g   Thompson, Catherine ^h   Sparagana, Steven P ^h,i   Davies, Peter ^j   van den Ouweland, Ans ^a   Halley, Dicky ^a   Nellist, Mark ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Center for Human Genetics and Laboratory Medicine   (Germany)

^d Center of Human Genetics   (Belgium)

^e ST GEORGE S HOSPITAL   (United Kingdom)

^f The University of Alabama at Birmingham   (United States)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

ⁱ UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^j CARDIFF UNIVERSITY   (United Kingdom)

more..

Author keywords

Functional assay; TSC2; Tuberous sclerosis complex; Unclassified variants

Indexed keywords

HAMARTIN; TUBERIN;

AMINO ACID SUBSTITUTION; ARTICLE; COMPUTER PROGRAM; FUNCTIONAL ASSESSMENT; GENE; GENE MUTATION; GENE PRODUCT; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TUBEROUS SCLEROSIS;

MAMMALIA;

EID: 84871618108     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22256     Document Type: Erratum

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