Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient

Molecular Genetics and Metabolism

Volumn 89, Issue 1-2, 2006, Pages 150-155

  Regis, Stefano ^a   Lualdi, Susanna ^a   Biffi, Alessandra ^b   Sessa, Maria ^c   Corsolini, Fabio ^a   Parenti, Giancarlo ^d   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Arylsulfatase A; Demyelinating disorder; Metachromatic leukodystrophy; Mitotic recombination; Mosaicism

Indexed keywords

CEREBROSIDE SULFATASE;

ALLELE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; GENE EXPRESSION; GENE FREQUENCY; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; MITOTIC RECOMBINATION; MOSAICISM; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; STATISTICAL SIGNIFICANCE;

ALLELES; AMINO ACID SEQUENCE; CEREBROSIDE-SULFATASE; CHILD; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MALE; MOLECULAR SEQUENCE DATA; RECOMBINATION, GENETIC;

EID: 33747001233     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.03.016     Document Type: Article

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