Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes

Journal of Medical Genetics

Volumn 52, Issue 2, 2015, Pages 128-134

  Spinelli, Laura ^a,b   Black, Fiona M ^b   Berg, Jonathan N ^b   Eickholt, Britta J ^c   Leslie, Nicholas R ^a,b  

^a HERIOT WATT UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE B; PTEN PROTEIN, HUMAN;

ALLELE; ARTICLE; AUTISM; DENDRITIC SPINE; DISEASE SEVERITY; GERMLINE MUTATION; HAMARTOMA; HUMAN; HUMAN CELL; MACROCEPHALY; MALIGNANT NEOPLASTIC DISEASE; MISSENSE MUTATION; NEOPLASM; NERVE CELL; PRIORITY JOURNAL; PROTEIN STABILITY; PTEN HAMARTOMA TUMOUR SYNDROME; BIOCATALYSIS; CELL CULTURE; CHEMISTRY; COWDEN SYNDROME; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; INHERITANCE; METABOLISM;

AUTISTIC DISORDER; BIOCATALYSIS; CELLS, CULTURED; GENETIC PREDISPOSITION TO DISEASE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; INHERITANCE PATTERNS; MUTATION, MISSENSE; NEURONS; PROTEIN STABILITY; PTEN PHOSPHOHYDROLASE;

EID: 84923337041     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102803     Document Type: Article

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