Metachromatic leukodystrophy - Mutation analysis provides further evidence of genotype-phenotype correlation

Clinical Genetics

Volumn 74, Issue 4, 2008, Pages 349-357

  Biffi, Alessandra ^a,b   Cesani, M ^a,c   Fumagalli, F ^b,c   Del Carro, U ^c   Baldoli, C ^c   Canale, S ^c   Gerevini, S ^c   Amadio, S ^c   Falautano, M ^c   Rovelli, A ^d   Comi, G ^b,c   Roncarolo, M G ^a,b   Sessa, Maria ^a,c  

^a SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITY OF MILANO BICOCCA   (Italy)

Author keywords

Genotype; Metachromatic leukodystrophy; Natural history; Peripheral nervous system; Phenotype; Rare mutations

Indexed keywords

CEREBROSIDE SULFATASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DELAYED DIAGNOSIS; DISEASE COURSE; DISEASE MARKER; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; METACHROMATIC LEUKODYSTROPHY; MUTANT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; PROGNOSIS;

ALLELES; BRAIN; CEREBROSIDE-SULFATASE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENOTYPE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MALE; MUTATION; PHENOTYPE;

EID: 52449114747     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01058.x     Document Type: Article

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