Accès à distance ? S'identifier sur le proxy UCLouvain
Oculocutaneous Albinism Type IV: A Boy of Moroccan Descent With a Novel Mutation in SLC45A2
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Document type | Article de périodique (Journal article) – Article de recherche |
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Publication date | 2009 |
Language | Anglais |
Journal information | "American Journal of Medical Genetics. Part A" - Vol. 149A, no. 8, p. 1773-1776 (2009) |
Peer reviewed | yes |
Publisher | Wiley-liss (Hoboken) |
issn | 1552-4825 |
e-issn | 1552-4833 |
Publication status | Publié |
Affiliations |
UCL
- Cliniques universitaires Saint-Luc UCL |
Keywords | melanin ; albinism ; melanogenesis ; Moroccan |
Links |
- Costin G.-E., Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4, 10.1242/jcs.00598
- Inagaki Katsuhiko, Suzuki Tamio, Shimizu Hiroshi, Ishii Norihisa, Umezawa Yoshinori, Tada Joji, Kikuchi Noriaki, Takata Minoru, Takamori Kenji, Kishibe Mari, Tanaka Michi, Miyamura Yoshinori, Ito Shiro, Tomita Yasushi, Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan, 10.1086/382195
- Inagaki Katsuhiko, Suzuki Tamio, Ito Shiro, Suzuki Noriyuki, Adachi Koji, Okuyama Torayuki, Nakata Yusei, Shimizu Hiroshi, Matsuura Hironori, Oono Takashi, Iwamatsu Hiroko, Kono Michihiro, Tomita Yasushi, Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes, 10.1111/j.1600-0749.2006.00332.x
- Konno Takayuki, Abe Yuko, Kawaguchi Masakazu, Kondo Taisuke, Tomita Yasushi, Suzuki Tamio, Functional analysis of OCA4 mutant sequences usingunder whitemouse melanocytes, 10.1111/j.1755-148x.2009.00549.x
- Lezirovitz Karina, Nicastro Fernanda Stávale, Pardono Eliete, Abreu-Silva Ronaldo Serafim, Batissoco Ana Carla, Neustein Isaac, Spinelli Mauro, Mingroni-Netto Regina Célia, Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”?, 10.1007/s10038-006-0003-7
- Newton J.M., Cohen-Barak Orit, Hagiwara Nobuko, Gardner John M., Davisson Muriel T., King Richard A., Brilliant Murray H., Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4, 10.1086/324340
- Rooryck Caroline, Morice-Picard Fanny, Elçioglu Nursel H., Lacombe Didier, Taieb Alain, Arveiler Benoît, Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects : Letter to the Editor, 10.1111/j.1755-148x.2008.00496.x
- Rundshagen Uta, Zühlke Christine, Opitz Sven, Schwinger Eberhard, Käsmann-Kellner Barbara, Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 : MATP MUTATIONS IN OCA4, 10.1002/humu.10311
- Sengupta, Mol Vis, 13, 1406 (2007)
- Suzuki Tamio, Tomita Yasushi, Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4, 10.1016/j.jdermsci.2007.12.008
- Suzuki T., Inagaki K., Fukai K., Obana A., Lee S-T., Tomita Y., A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in theMATPgene, 10.1111/j.1365-2133.2005.06403.x
Bibliographic reference | Konno, Takayuki ; Courtens, Winnie ; Abe, Yuko ; Kawaguchi, Masakazu ; Storm, Katrien ; et. al. Oculocutaneous Albinism Type IV: A Boy of Moroccan Descent With a Novel Mutation in SLC45A2. In: American Journal of Medical Genetics. Part A, Vol. 149A, no. 8, p. 1773-1776 (2009) |
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Permanent URL | http://hdl.handle.net/2078.1/35410 |