Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants-Reference-Cited by-同舟云学术

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

Published:2018-02-08 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Gao Zhijie,Xie Hua,Jiang Qian,Wu Nan,Chen Xiaoli,Chen Qian^ORCID

Funder

the Beijing Municipal Science and Technology Commission

the Capital Health Research and Development of Special

Beijing Natural Science Foundation

the advanced Personnel Training Program of Beijing Municipal Health Bureau

Beijing nova program interdisciplinary collaborative project

Chinese National Nature Science Fund

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0535-7.pdf

Reference28 articles.

1. Wisniewski KE, Zhong N. Batten disease: diagnosis, treatment, and research. London: Adv Genet. Academic; 2001.

2. Haltia M, Goebel HH. The neuronal ceroid-lipofuscinoses: a historical introduction. Biochim Biophys Acta. 2013;1832(11):1795–800.

3. Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol. 2003;62(1):1–13.

4. Warrier V, Vieira M, Mole SE. Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. Biochim Biophys Acta. 2013;1832(11):1827–30.

5. Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, et al. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002;70(2):324–35.

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