Lysosomal storage disease in the brain: Mutations of the β-mannosidase gene identified in autosomal dominant nystagmus

Genetics in Medicine

Volumn 17, Issue 12, 2015, Pages 971-979

  Yu, Ping ^a   Cui, Yun ^b   Cai, Wanshi ^c   Wu, Honghu ^a   Xiao, Xiaoqiang ^a   Shao, Qianzhi ^a   Ma, Liang ^b   Guo, Sen ^a   Wu, Nana ^a   Jin, Zi Bing ^d   Wang, Yongjin ^b   Cai, Tao ^e   Sun, Zhong Sheng ^a,c   Qu, Jia ^d  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b CHANGZHI MEDICAL COLLEGE   (China)

^c INSTITUTE OF GEOLOGY AND GEOPHYSICS   (China)

^d State Key Laboratory Cultivation Base   (China)

^e NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

Author keywords

lysosomal storage diseases; MANBA; neuronal ceroid lipofuscinoses; nystagmus; whole exome sequencing

Indexed keywords

BETA MANNOSIDASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN DISEASE; BRAIN REGION; CASE REPORT; CHILD; CONGENITAL NYSTAGMUS; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; ENZYME ACTIVITY; EVOKED VISUAL RESPONSE; EYE MOVEMENT; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HAPLOTYPE; HUMAN; IN SITU HYBRIDIZATION; INDEL MUTATION; INFANTILE NYSTAGMUS; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTICAL COHERENCE TOMOGRAPHY; OPTOKINETIC NYSTAGMUS; PROTEIN PROTEIN INTERACTION; VISUAL ACUITY; WESTERN BLOTTING; ENZYMOLOGY; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOPHYSIOLOGY;

BETA-MANNOSIDASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LYSOSOMAL STORAGE DISEASES; MUTATION; NYSTAGMUS, CONGENITAL;

EID: 84949225964     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.10     Document Type: Article

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