Literature DB >> 21547333

In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.

Jouni Uitto1.   

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Year:  2011        PMID： 21547333     DOI： 10.2340/00015555-1131

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  3 in total

1.  Toward treatment and cure of epidermolysis bullosa.

Authors:  Jouni Uitto
Journal:  Proc Natl Acad Sci U S A       Date:  2019-12-11       Impact factor: 11.205

2.  Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.

Authors:  Ying Lin; Xue-Jun Chen; Wei Liu; Bo Gong; Jun Xie; Jun-Hao Xiong; Jing Cheng; Xi-Ling Duan; Zhao-Chun Lin; Lu-Lin Huang; Hui-Ying Wan; Xiao-Qi Liu; Lin-Hong Song; Zheng-Lin Yang
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240

3.  Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing.

Authors:  Thi Huyen Thuong Ma; Thi Lan Anh Luong; Thu Lan Hoang; Thi Thanh Hoa Nguyen; Thi Ha Vu; Van Khoa Tran; Duy Bac Nguyen; Tien Sang Trieu; Hai Ha Nguyen; Van Hai Nong; Dang Ton Nguyen
Journal:  Mol Genet Genomic Med       Date:  2021-07-19       Impact factor: 2.183
  3 in total

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