Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Tappino, Barbara; Biancheri, Roberta; Mort, Matthew; Regis, Stefano; Corsolini, Fabio; Rossi, Andrea; Stroppiano, Marina; Lualdi, Susanna; Fiumara, Agata; Bembi, Bruno; Di Rocco, Maja; Cooper, David N; Filocamo, Mirella

Tappino, Barbara; Biancheri, Roberta; Mort, Matthew; Regis, Stefano; Corsolini, Fabio; Rossi, Andrea; Stroppiano, Marina; Lualdi, Susanna; Fiumara, Agata; Bembi, Bruno; Di Rocco, Maja; Cooper, David N; Filocamo, Mirella.

Affiliation

Tappino B; S.S.D. Lab. Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G. Gaslini, Genova, Italy.

Hum Mutat ; 31(12): E1894-914, 2010 Dec.

Article in En | MEDLINE | ID: mdl-20886637

Subject(s)

Galactosylceramidase/genetics; Leukodystrophy, Globoid Cell/enzymology; Leukodystrophy, Globoid Cell/genetics; Mutation, Missense/genetics; Adult; Amino Acid Sequence; Amino Acids/genetics; Base Sequence; Child; Child, Preschool; Conserved Sequence/genetics; Evolution, Molecular; Female; Founder Effect; Galactosylceramidase/chemistry; Genetic Association Studies; Humans; Infant; Infant, Newborn; Italy; Male; Molecular Sequence Data; Polymorphism, Single Nucleotide/genetics; RNA Processing, Post-Transcriptional/genetics; RNA Splicing/genetics; RNA, Messenger/genetics; RNA, Messenger/metabolism; Reverse Transcriptase Polymerase Chain Reaction; Software

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Galactosylceramidase / Leukodystrophy, Globoid Cell Type of study: Diagnostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Europa Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2010 Type: Article Affiliation country: Italy

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