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

Human Mutation

Volumn 31, Issue 12, 2010, Pages

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

^a G GASLINI INSTITUTE   (Italy)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF CATANIA   (Italy)

^d SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

Author keywords

Founder mutation; GALC mutations; Genotype phenotype analysis; Krabbe disease; Leukodystrophy

Indexed keywords

GALACTOSYLCERAMIDASE; MESSENGER RNA;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; EXON SKIPPING; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GLOBOID CELL LEUKODYSTROPHY; HAPLOTYPE; HUMAN; INFANT; MISSENSE MUTATION; MUTANT; NEURORADIOLOGY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA PROCESSING; RNA SPLICING; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINO ACID SEQUENCE; AMINO ACIDS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSERVED SEQUENCE; EVOLUTION, MOLECULAR; FEMALE; FOUNDER EFFECT; GALACTOSYLCERAMIDASE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; ITALY; LEUKODYSTROPHY, GLOBOID CELL; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA SPLICING; RNA, MESSENGER; SOFTWARE;

EID: 78649549132     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21367     Document Type: Article

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