Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome

Biochemical and Biophysical Research Communications

Volumn 428, Issue 4, 2012, Pages 532-537

  Huber Ruano, Isabel ^a,b,f   Errasti Murugarren, Ekaitz ^a,b,g   Godoy, Valeria ^a,b   Vera, Ángel ^c   Andreu, Antoni L ^d,e   Garcia Arumi, Elena ^d,e   Martí, Ramon ^d,e   Pastor Anglada, Marçal ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^f VALL D HEBRON UNIVERSITY HOSPITAL   (Spain)

^g INSTITUTE FOR RESEARCH IN BIOMEDICINE   (Spain)

Author keywords

H syndrome; MtDNA copy number; MtDNA depletion; Nucleoside transporter; SLC29A3

Indexed keywords

ADENOSINE; COMPLEMENTARY DNA; DEOXYURIDINE; EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 3 PROTEIN; GEMCITABINE; MITOCHONDRIAL DNA; NUCLEOSIDE; NUCLEOSIDE TRANSPORTER; RIBAVIRIN; RNA; RNA 12S; THYMIDINE; THYMINE; UNCLASSIFIED DRUG; URIDINE; ZALCITABINE; ZIDOVUDINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL CULTURE; CELL TRANSFORMATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CYTOTOXICITY; DRUG DOSE COMPARISON; DRUG EFFECT; DRUG MEGADOSE; GENE; GENE MUTATION; GENE SEQUENCE; HISTIOCYTOSIS; HUMAN; HUMAN CELL; HYPERPIGMENTATION; HYPERTRICHOSIS; LOW DRUG DOSE; LYSOSOME STORAGE DISEASE; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL RESPIRATION; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCREENING; SHORT STATURE; SKIN BIOPSY; SKIN FIBROBLAST; SLC29A3 GENE; SYNDROME; SYNDROME DELINEATION; SYNDROME H; URINE LEVEL;

CELL LINE; DNA, MITOCHONDRIAL; DWARFISM; FATAL OUTCOME; FIBROBLASTS; HISTIOCYTOSIS; HUMANS; HYPERPIGMENTATION; HYPERTRICHOSIS; MALE; MUTATION; NUCLEOSIDE TRANSPORT PROTEINS; RNA, MESSENGER; SYNDROME; YOUNG ADULT;

EID: 84870365348     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.09.143     Document Type: Article

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