Article
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 (Basel, Switzerland) - 1 Jan 2012
Farooq Muhammad, Moustafa Rasha Mohammad, Fujimoto Atsushi, Fujikawa Hiroki, Abbas Ossama, Kibbi Abdul Ghani, Kurban Mazen, Shimomura Yutaka
Abstract excerpt
BACKGROUND: H syndrome is a rare autosomal recessive genetic disorder which involves the skin and other systemic organs and is caused by mutations in the SLC29A3 gene. OBJECTIVES: To disclose the molecular basis of H syndrome in two Syrian families, and to determine the localization of hENT3 in human skin. METHODS: DNA from two Syrian families with H syndrome was analyzed through direct sequencing, and the...
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