A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset

Neurology

Volumn 64, Issue 4, 2005, Pages 740-742

  Pineda Trujillo, N ^a,b   Cornejo, W ^a   Carrizosa, J ^a   Wheeler, R B ^b   Munera S ^a   Valencia, A ^a   Agudelo Arango, J ^c   Cogollo, A ^d   Anderson, G ^e   Bedoya, G ^a   Mole, S E ^b   Ruíz Linares, Andres ^a,b  

^a UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Hospital Universitario San Vicente de Paul   (Colombia)

^d Instituto de Seguros Sociales Bogota   (Colombia)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; CLN5 GENE; COLOMBIA; CONSANGUINITY; ELECTRON MICROSCOPY; GENE; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MICROSATELLITE MARKER; MISSENSE MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; ONSET AGE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; SKIN BIOPSY;

EID: 13844307916     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000151974.44980.F1     Document Type: Article

References (9)

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