Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1

Clinical Neurology and Neurosurgery

Volumn 113, Issue 6, 2011, Pages 480-482

  Du, Juan ^a   Hu, Ya Cen ^a   Tang, Bei Sha ^a,b   Chen, Chong ^a   Luo, Ying Ying ^a   Zhan, Zi Xiong ^a   Zhao, Guo Hua ^c   Jiang, Hong ^a,b   Xia, Kun ^b   Shen, Lu ^a,b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c ZHEJIANG UNIVERSITY   (China)

Author keywords

Chinese; Hereditary spastic paraplegia; Mutation analysis; NIPA1; SPG6

Indexed keywords

ADULT; AGED; ARTICLE; CHINESE; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEQUENCE; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPASTIC PARAPLEGIA TYPE 6; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUTATIONAL ANALYSIS; NERVE POTENTIAL; NIPA1 GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; SENSORY NERVE CONDUCTION; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; EXONS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MOTOR NEURONS; MUTATION; NEURAL CONDUCTION; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 79958126211     PISSN: 03038467     EISSN: 18726968     Source Type: Journal    
DOI: 10.1016/j.clineuro.2011.02.011     Document Type: Article

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