Literature DB >> 28481129

Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.

Britta Feldhaus1, Susanne Kohl2, Konstanze Hörtnagel3, Nicole Weisschuh2, Ditta Zobor1.   

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Year:  2017        PMID: 28481129     DOI: 10.1080/13816810.2017.1318925

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


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  2 in total

1.  Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.

Authors:  Xueshan Xiao; Wenmin Sun; Shiqiang Li; Xiaoyun Jia; Qingjiong Zhang
Journal:  Mol Vis       Date:  2019-12-02       Impact factor: 2.367

2.  Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.

Authors:  Ren-Juan Shen; Jun-Gang Wang; Yang Li; Zi-Bing Jin
Journal:  Orphanet J Rare Dis       Date:  2021-06-15       Impact factor: 4.123

  2 in total

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