Literature DB >> 18925668

A new hypothesis of OCA1B.

Pei-Wen Chiang1, Joanne M Drautz, Anne Chun-Hui Tsai, Elaine Spector, Carol L Clericuzio.   

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Year:  2008        PMID： 18925668     DOI： 10.1002/ajmg.a.32539

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

Review 1.  DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Authors:  Dimitre R Simeonov; Xinjing Wang; Chen Wang; Yuri Sergeev; Monika Dolinska; Matthew Bower; Roxanne Fischer; David Winer; Genia Dubrovsky; Joan Z Balog; Marjan Huizing; Rachel Hart; Wadih M Zein; William A Gahl; Brian P Brooks; David R Adams
Journal:  Hum Mutat       Date:  2013-04-30       Impact factor: 4.878

2.  Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits.

Authors:  Kasturee Jagirdar; Darren J Smit; Stephen A Ainger; Katie J Lee; Darren L Brown; Brett Chapman; Zhen Zhen Zhao; Grant W Montgomery; Nicholas G Martin; Jennifer L Stow; David L Duffy; Richard A Sturm
Journal:  Pigment Cell Melanoma Res       Date:  2014-05-12       Impact factor: 4.693

3.  Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Authors:  Vadieh Ghodsinejad Kalahroudi; Behnam Kamalidehghan; Ahoura Arasteh Kani; Omid Aryani; Mahdi Tondar; Fatemeh Ahmadipour; Lip Yong Chung; Massoud Houshmand
Journal:  PLoS One       Date:  2014-09-12       Impact factor: 3.240

4.  Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance alleles.

Authors:  Nicholas K Wang; John P W Chiang
Journal:  Genet Med       Date:  2018-11-02       Impact factor: 8.822

5.  Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Authors:  Hwei Wuen Chan; Elena R Schiff; Vijay K Tailor; Samantha Malka; Magella M Neveu; Maria Theodorou; Mariya Moosajee
Journal:  Genes (Basel)       Date:  2021-03-30       Impact factor: 4.096
  5 in total

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