The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

Clinical Genetics

Volumn 74, Issue 3, 2008, Pages 213-222

  Moore, S J ^a,d   Buckley, D J ^a   Macmillan, A ^b   Marshall, H D ^a   Steele, L ^c   Ray, P N ^c   Nawaz, Z ^c   Baskin, B ^c   Frecker, M ^a   Carr, S M ^c   Ives, E ^a   Parfrey, P S ^a  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^b Health Sciences Centre St John's   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d New Janeway Childrens Health and Rehabilitation Centre   (Canada)

Author keywords

CLN mutations; Genotype; Neuronal ceroid lipofuscinosis; Pediatric neurodegenerative disease; Phenotype correlation

Indexed keywords

CYCLINE; DNA; PROTEIN CLN2; PROTEIN CLN3; PROTEIN CLN5; PROTEIN CLN6;

ARTICLE; CANADA; CHILD; DISEASE COURSE; FAMILY; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HUMAN TISSUE; INCIDENCE; LIVE BIRTH; MAJOR CLINICAL STUDY; NEURONAL CEROID LIPOFUSCINOSIS; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SKIN BIOPSY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENDOPEPTIDASES; FAMILY; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; MALE; MEMBRANE PROTEINS; NEURONAL CEROID-LIPOFUSCINOSES; NEWFOUNDLAND AND LABRADOR; PHENOTYPE;

EID: 49549124783     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01054.x     Document Type: Article

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