Literature DB >> 28556060

The value of a comprehensive natural history in late infantile CLN5 disease.

Sara E Mole1.   

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Year:  2017        PMID： 28556060     DOI： 10.1111/dmcn.13472

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


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  1 in total

1.  A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.

Authors:  Wei Li; Xin Fan; Yue Zhang; Limei Huang; Tingting Jiang; Zailong Qin; Jiasun Su; Jingrong Luo; Shang Yi; Shujie Zhang; Yiping Shen
Journal:  BMC Med Genet       Date:  2020-05-11       Impact factor: 2.103
  1 in total

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