Literature DB >> 15656822

A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.

T Suzuki1, K Inagaki, K Fukai, A Obana, S-T Lee, Y Tomita.   

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Year:  2005        PMID： 15656822     DOI： 10.1111/j.1365-2133.2005.06403.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  8 in total

1.  Molecular analysis of Korean patients with oculocutaneous albinism.

Authors:  Shin Hae Park; Hyojin Chae; Yonggoo Kim; Myungshin Kim
Journal:  Jpn J Ophthalmol       Date:  2011-11-01       Impact factor: 2.447

2.  Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Authors:  Letizia Straniero; Valeria Rimoldi; Giulia Soldà; Lucia Mauri; Emanuela Manfredini; Elena Andreucci; Sara Bargiacchi; Silvana Penco; Giovanni P Gesu; Alessandra Del Longo; Elena Piozzi; Rosanna Asselta; Paola Primignani
Journal:  J Hum Genet       Date:  2015-05-28       Impact factor: 3.172

3.  Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Authors:  Jung Min Ko; Jung-Ah Yang; Seon-Yong Jeong; Hyon-Ju Kim
Journal:  Mol Med Rep       Date:  2012-01-25       Impact factor: 2.952

4.  Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity.

Authors:  Bum-Ho Bin; Jinhyuk Bhin; Seung Ha Yang; Misun Shin; Yeon-Ju Nam; Dong-Hwa Choi; Dong Wook Shin; Ai-Young Lee; Daehee Hwang; Eun-Gyung Cho; Tae Ryong Lee
Journal:  PLoS One       Date:  2015-06-09       Impact factor: 3.240

5.  Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Authors:  C C Kruijt; N E Schalij-Delfos; G C de Wit; R J Florijn; M M van Genderen
Journal:  Sci Rep       Date:  2021-06-02       Impact factor: 4.379

Review 6.  Oculocutaneous albinism.

Authors:  Karen Grønskov; Jakob Ek; Karen Brondum-Nielsen
Journal:  Orphanet J Rare Dis       Date:  2007-11-02       Impact factor: 4.123

Review 7.  Mutational analysis of oculocutaneous albinism: a compact review.

Authors:  Balu Kamaraj; Rituraj Purohit
Journal:  Biomed Res Int       Date:  2014-06-29       Impact factor: 3.411

8.  Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.

Authors:  Sophie Rothammer; Elisabeth Kunz; Doris Seichter; Stefan Krebs; Martina Wassertheurer; Ruedi Fries; Gottfried Brem; Ivica Medugorac
Journal:  Genet Sel Evol       Date:  2017-10-05       Impact factor: 4.297
  8 in total

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