Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

Gene

Volumn 512, Issue 1, 2013, Pages 113-116

  Sperb, Fernanda ^a,b   Vairo, Filippo ^a,b   Burin, Maira ^a   Mayer, Fabiana Quoos ^a,b   Matte, Ursula ^a,b   Giugliani, Roberto ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

Author keywords

galactosidase; Clinical features; GLB1 gene; GM1 gangliosidosis; Mutation analysis

Indexed keywords

ARTICLE; BLINDNESS; CEREBELLUM ATROPHY; CLINICAL FEATURE; COGNITIVE DEFECT; DYSARTHRIA; ENZYME ACTIVITY; EXON; GALACTOSIALIDOSIS; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GM1 GANGLIOSIDOSIS; HEPATOSPLENOMEGALY; HUMAN; HYDROCEPHALUS; HYPERTELORISM; KYPHOSCOLIOSIS; KYPHOSIS; LEUKOCYTE; LEUKODYSTROPHY; MACROCEPHALY; MAJOR CLINICAL STUDY; NYSTAGMUS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; STRABISMUS;

ADOLESCENT; AGE OF ONSET; ALLELES; BETA-GALACTOSIDASE; BRAZIL; CHILD; CHILD, PRESCHOOL; GANGLIOSIDOSIS, GM1; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 84868615411     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.106     Document Type: Article

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