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

Human Mutation

Volumn 30, Issue 3, 2009, Pages

  Aiello, Chiara ^a   Terracciano, Alessandra ^a   Simonati, Alessandro ^b   Discepoli, Giancarlo ^c   Cannelli, Natalia ^a   Claps, Dianela ^a   Crow, Yanick J ^d   Bianchi, Marzia ^a   Kitzmuller, Claudia ^e   Longo, Daniela ^a   Tavoni, Antonietta ^b   Franzoni, Emilio ^f   Tessa, Alessandra ^a   Veneselli, Edwige ^g   Boldrini, Renata ^a   Filocamo, Mirella ^g   Williams, Ruth E ^h   Bertini, Enrico S ^a   Biancheri, Roberta ^g   Carrozzo, Rosalba ^a   Mole, Sara E ^e,i   Santorelli, Filippo M ^a,j   more..

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c Ospedale Pediatrico G Salesi   (Italy)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF BOLOGNA   (Italy)

^g G GASLINI INSTITUTE   (Italy)

^h EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j Molecular Medicine   (Italy)

more..

Author keywords

CLN7; MFSD8; NCL; Neuronal ceroid lipofuscinosis; v LINCL

Indexed keywords

ARGININE; CYTOSINE; GENE PRODUCT; GLUTAMIC ACID; GLYCINE; GUANINE; LEUCINE; METHIONINE; PROLINE; THREONINE; TYROSINE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLN7 GENE; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE LOCATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; ITALY; MALE; MFSD8 GENE; MISSENSE MUTATION; MUTATION RATE; NEURONAL CEROID LIPOFUSCINOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TURKEY (REPUBLIC);

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 61649110927     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20975     Document Type: Article

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