Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Brain

Volumn 132, Issue 3, 2009, Pages 810-819

  Kousi, Maria ^a   Siintola, Eija ^a   Dvorakova, Lenka ^b   Vlaskova, Hana ^b   Turnbull, Julie ^c   Topcu, Meral ^d   Yuksel, Deniz ^e   Gokben, Sarenur ^f   Minassian, Berge A ^c   Elleder, Milan ^b   Mole, Sara E ^g   Lehesjoki, Anna Elina ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d HACETTEPE UNIVERSITY   (Turkey)

^e DR SAMI ULUS CHILDREN S HOSPITAL   (Turkey)

^f EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

CLN7; MFSD8; Mutations; Neuronal ceroid lipofuscinosis

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL EVALUATION; CONTROLLED STUDY; DISEASE COURSE; ETHNICITY; FAMILY; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEURONAL CEROID LIPOFUSCINOSIS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR;

EID: 64849091209     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn366     Document Type: Article

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