A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis-Reference-Cited by-同舟云学术

A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis

Published:2010-09-07 Issue:1 Volume:12 Page:93-95
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Wang Yu-Liang,Zeng Zhi-Yong,Song Xing-Wang,Hao Zhuo-Fang,Shi Yi-Wu,Tang Bin,Chen Sheng-Qiang,Gao Mei-Mei,Di Wei,Long Yue-Sheng,Yi Yong-Hong,Liao Wei-Ping

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-010-0258-1.pdf

Reference6 articles.

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

2. Mole SE, Williams RE, Goebel HH (2005) Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6:107–126

3. Sleat DE, Donnelly RJ, Lackland H et al (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277:1802–1805

4. Rawlings ND, Barrett AJ (1999) Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochem Biophys Acta 1429:496–500

5. Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P (1999) Mutational analysis of the defective protease in classical late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet 64:1511–1523

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