Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

European Journal of Human Genetics

Volumn 19, Issue 7, 2011, Pages 789-795

  Dunlop, Elaine A ^a   Dodd, Kayleigh M ^a   Land, Stephen C ^b   Davies, Peter A ^a   Martins, Nicole ^a   Stuart, Helen ^c   McKee, Shane ^d   Kingswood, Chris ^e   Saggar, Anand ^f   Corderio, Isabel ^g   Medeira, Ana Maria Duarte ^g   Kingston, Helen ^h   Sampson, Julian R ^a   Davies, David Mark ^a   Tee, Andrew R ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^d BELFAST CITY HOSPITAL   (United Kingdom)

^e ROYAL SUSSEX COUNTY HOSPITAL   (United Kingdom)

^f ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^g HOSPITAL DE SANTA MARIA   (Portugal)

^h ST MARY S HOSPITAL   (United Kingdom)

Author keywords

function; mutation; pathogenicity; TSC

Indexed keywords

GUANOSINE TRIPHOSPHATASE; HYPOXIA INDUCIBLE FACTOR 1ALPHA; MAMMALIAN TARGET OF RAPAMYCIN; RHEB PROTEIN; TUBERIN;

ADOLESCENT; ARTICLE; ASSAY; AUTISM; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC VALUE; EVIDENCE BASED MEDICINE; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC TRANSCRIPTION; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MUTAGENESIS; PATHOGENICITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; PROTEIN STABILITY; SCHOOL CHILD; SEIZURE; TUBEROUS SCLEROSIS COMPLEX; WILD TYPE;

ADOLESCENT; ANIMALS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; GENETIC DISEASES, INBORN; GENOTYPE; HEK293 CELLS; HUMANS; INFANT; MICE; MUTATION; PHENOTYPE; PHOSPHORYLATION; PROTEIN MULTIMERIZATION; PROTEIN STABILITY; PROTEINS; TUMOR SUPPRESSOR PROTEINS;

EID: 79959277757     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.38     Document Type: Article

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