5′-UTR structural organization, transcript expression, and mutational analysis of the human rab geranylgeranyl transferase α-subunit (RABGGTA) gene

Molecular Genetics and Metabolism

Volumn 71, Issue 4, 2000, Pages 599-608

  Li, Wei ^a   Detter, John C ^b   Weiss, Harvey J ^c   Cramer, Elisabeth M ^d   Zhang, Qing ^a   Novak, Edward K ^a   Favier, Rémi ^e   Kingsmore, Stephen F ^f   Swank, Richard T ^a  

^a ROSWELL PARK CANCER INSTITUTE   (United States)

^b DOE JOINT GENOME INSTITUTE   (United States)

^c ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^d Maternite Port Royal ^*  (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f Molecular Staging Inc   (United States)

Author keywords

Gray platelet syndrome; Hermansky Pudlak syndrome; Platelet storage pool deficiency; Rab geranylgeranyl transferase subunit

Indexed keywords

GENE PRODUCT; GERANYLGERANYLTRANSFERASE; GERANYLTRANSFERASE; RAB PROTEIN; UNCLASSIFIED DRUG; PROTEIN SUBUNIT; RAB GERANYLGERANYLTRANSFERASE; TRANSFERASE;

5' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME SUBUNIT; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC ORGANIZATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOME; HOUSEKEEPING GENE; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; THROMBOCYTE DISORDER; ANIMAL; CELL ORGANELLE; CHEMISTRY; DISEASE MODEL; ENZYMOLOGY; GENETIC SCREENING; GENETICS; LYSOSOME; MELANOSOME; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; MOUSE; MUTATION; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME;

5' UNTRANSLATED REGIONS; ALKYL AND ARYL TRANSFERASES; ANIMALS; BASE SEQUENCE; CLONING, MOLECULAR; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC SCREENING; HUMANS; INTRONS; LYSOSOMES; MELANOSOMES; MICE; MOLECULAR SEQUENCE DATA; MUTATION; ORGANELLES; PLATELET STORAGE POOL DEFICIENCY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN SUBUNITS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SYNDROME; TRANSCRIPTION, GENETIC;

EID: 0034352949     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3091     Document Type: Article

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