Birt Hogg-Dubé Syndrome-associated FLCN mutations disrupt protein stability

Human Mutation

Volumn 32, Issue 8, 2011, Pages 921-929

  Nahorski, Michael S ^a   Reiman, Anne ^a   Lim, Derek H K ^a,b   Nookala, Ravi K ^c   Seabra, Laurence ^a   Lu, Xiaohong ^a   Fenton, Janine ^a   Boora, Uncaar ^a   Nordenskjöld, Magnus ^d   Latif, Farida ^a   Hurst, Laurence D ^e   Maher, Eamonn R ^a,b  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e University of Bath   (United Kingdom)

Author keywords

Birt Hogg Dub ; FLCN; Folliculin; Molecular evolution; Protein stability

Indexed keywords

ESTRONE;

AMINO ACID SEQUENCE; ARTICLE; BIRT HOGG DUBE SYNDROME; CELLULAR DISTRIBUTION; COMPUTER MODEL; CONTROLLED STUDY; GENE DISRUPTION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; INDEL MUTATION; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN STABILITY; TRANSIENT TRANSFECTION; TUMOR SUPPRESSOR GENE;

BIRT-HOGG-DUBE SYNDROME; CELL LINE, TUMOR; CELL PROLIFERATION; COMPUTATIONAL BIOLOGY; EVOLUTION, MOLECULAR; GENE ORDER; HUMANS; INTRACELLULAR SPACE; MODELS, STATISTICAL; MUTATION; PROTEIN STABILITY; PROTEIN TRANSPORT; PROTO-ONCOGENE PROTEINS; TUMOR SUPPRESSOR PROTEINS;

EID: 79960833877     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21519     Document Type: Article

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