Literature DB >> 16098056

Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1).

Yoshinori Miyamura, Ishwar C Verma, Renu Saxena, Michiko Hoshi, Ayumi Murase, Eriko Nakamura, Michihiro Kono, Tamio Suzuki, Satoshi Yasue, Shin-Ichi Shibata, Akihiro Sakakibara, Yasushi Tomita.   

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Year:  2005        PMID： 16098056     DOI： 10.1111/j.0022-202X.2005.23815.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  5 in total

1.  Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Authors:  Annagiusi Gargiulo; Francesco Testa; Settimio Rossi; Valentina Di Iorio; Simona Fecarotta; Teresa de Berardinis; Antonello Iovine; Adriano Magli; Sabrina Signorini; Elisa Fazzi; Maria Silvana Galantuomo; Maurizio Fossarello; Sandro Montefusco; Alfredo Ciccodicola; Alberto Neri; Claudio Macaluso; Francesca Simonelli; Enrico Maria Surace
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-03-14       Impact factor: 4.799

2.  Pigmentation in Black-boned sheep (Ovis aries): association with polymorphism of the Tyrosinase gene.

Authors:  W D Deng; D M Xi; X Gou; S L Yang; X W Shi; H M Mao
Journal:  Mol Biol Rep       Date:  2007-05-23       Impact factor: 2.316

3.  Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Authors:  Thomas J Jaworek; Tasleem Kausar; Shannon M Bell; Nabeela Tariq; Muhammad Imran Maqsood; Asma Sohail; Muhmmmad Ali; Furhan Iqbal; Shafqat Rasool; Saima Riazuddin; Rehan S Shaikh; Zubair M Ahmed
Journal:  Orphanet J Rare Dis       Date:  2012-06-26       Impact factor: 4.123

4.  Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Authors:  Kathirvel Renugadevi; Asim Kumar Sil; Vijayalakshmi Perumalsamy; Periasamy Sundaresan
Journal:  Mol Vis       Date:  2010-08-09       Impact factor: 2.367

5.  Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family.

Authors:  H Pour-Jafari; A Zamanian; B Pour-Jafari
Journal:  Iran J Public Health       Date:  2010-03-31       Impact factor: 1.429
  5 in total

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