CLN5 mutations are frequent in juvenile and late-onset non-finnish patients with NCL

Neurology

Volumn 74, Issue 7, 2010, Pages 565-571

  Xin, W ^a   Mullen, T E ^a   Kiely, R ^a   Min, J ^a   Feng, X ^a   Cao, Y ^a   O'Malley, L ^a   Shen, Y ^a   Chu Shore, C ^a   Mole, S E ^b   Goebel, H H ^c   Sims, K ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLN5 GENE; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; INDEL MUTATION; MISSENSE MUTATION; MOTOR DYSFUNCTION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NERVOUS SYSTEM DEVELOPMENT; NEURONAL CEROID LIPOFUSCINOSIS; ONSET AGE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; VISUAL DISORDER;

EID: 77149128991     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181cff70d     Document Type: Article

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