Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: Expression studies of SLC29A3 (hENT3) in human skin

Dermatology

Volumn 224, Issue 3, 2012, Pages 277-284

  Farooq, Muhammad ^a   Moustafa, Rasha Mohammad ^b   Fujimoto, Atsushi ^a   Fujikawa, Hiroki ^a   Abbas, Ossama ^c   Kibbi, Abdul Ghani ^c   Kurban, Mazen ^c,d   Shimomura, Yutaka ^a  

^a NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^b University Hospital   (Syrian Arab Republic)

^c Departments of Dermatology   (Lebanon)

^d AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

H syndrome; Histiocytes; Hyperpigmentation; Hypertrichosis; SLC29A3

Indexed keywords

AMINO ACID; DNA; EQUILIBRATIVE NUCLEOSIDE TRANSPORTER;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD; CASE REPORT; CHILD; CLINICAL FEATURE; DNA SEQUENCE; ECHOCARDIOGRAPHY; ENDOTHELIUM; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HEPATOMEGALY; HISTIOCYTE; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; INTRON; LIVER BIOPSY; LIVER FIBROSIS; LYMPH VESSEL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SKIN; SOLUTE CARRIER FAMILY 29 MEMBER 3 GENE; SYNDROME H; SYRIAN ARAB REPUBLIC;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CONTRACTURE; ENDOTHELIUM, VASCULAR; FEMALE; HEARING LOSS, SENSORINEURAL; HISTIOCYTES; HISTIOCYTOSIS; HUMANS; LYMPHATIC VESSELS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEOSIDE TRANSPORT PROTEINS; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYNDROME; SYRIA;

EID: 84863776953     PISSN: 10188665     EISSN: 14219832     Source Type: Journal    
DOI: 10.1159/000338886     Document Type: Article

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