The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function

Molecular Genetics and Metabolism

Volumn 89, Issue 1-2, 2006, Pages 121-128

  Lichter Konecki, U ^a   Farber, L W ^b   Cronin, J S ^b   Suchy, S F ^b   Nussbaum, R L ^b  

^a CHILDREN S RESEARCH INSTITUTE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

GTPase activating protein; Lowe syndrome; Phosphatidylinositol 4,5 bisphosphate 5 phosphatase

Indexed keywords

ARF PROTEIN; GUANOSINE TRIPHOSPHATASE; PROTEIN; PROTEIN OCR11; RHO GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHEMICAL INTERACTION; CONTROLLED STUDY; ENDOSOME; ENZYME ACTIVATION; ENZYME ACTIVITY; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; LOWE SYNDROME; MISSENSE MUTATION; MOLECULAR DYNAMICS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; TRANS GOLGI NETWORK; WILD TYPE; X CHROMOSOME LINKED DISORDER;

ADP-RIBOSYLATION FACTORS; ENZYME ACTIVATION; FIBROBLASTS; GTP PHOSPHOHYDROLASES; GTPASE-ACTIVATING PROTEINS; HUMANS; IMMUNOPRECIPITATION; MUTATION, MISSENSE; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN STRUCTURE, TERTIARY;

EID: 33746987509     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.04.005     Document Type: Article

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