Literature DB >> 23633024

Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.

Hongzhou Cui1, Min Gao1, Wenjun Wang1, Ruo Xiao2, Gang Chen1, Qing Zhang2, Hongyang Fu1, Yi Zhou1, Birong Guo3, Ying Dong1, Jie Shen1, Min Zhang1, Zhen Yue1, Fengxia Liu2, Da Lin1, Tianwen Gao4, Anping Zhang1, Wenming Zhou1, Liangdan Sun1, Sen Yang1, Jun Wang5, Yong Cui6, Xuejun Zhang7.   

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Year:  2013        PMID： 23633024     DOI： 10.1038/jid.2013.198

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


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  2 in total

1.  Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.

Authors:  Megan Furniss; Claire A Higgins; Amalia Martinez-Mir; Liran Horev; Lynn Petukhova; Andrija Stanimirović; Jovan Miljković; Abraham Zlotogorski; Angela M Christiano
Journal:  J Invest Dermatol       Date:  2014-01-03       Impact factor: 8.551

2.  New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.

Authors:  E Pohler; M Huber; S E Boonen; M Zamiri; P A Gregersen; M Sommerlund; M Ramsing; D Hohl; W H I McLean; F J D Smith
Journal:  Br J Dermatol       Date:  2014-08-07       Impact factor: 9.302
  2 in total

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