GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients

Gene

Volumn 506, Issue 1, 2012, Pages 25-30

  Gort, Laura ^a,b,c   De Olano, Natalia ^a   Macías Vidal, Judit ^a,b,c   Coll, Ma Josep ^a,b,c  

^a HOSPITAL CLÍNIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

GM2 gangliosidosis; HEXA gene; HEXB gene; Sandhoff disease; Tay Sachs disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; GANGLIOSIDE GM2;

ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SANDHOFF DISEASE; SPAIN; TAY SACHS DISEASE;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HEXOSAMINIDASE A; HEXOSAMINIDASE B; HOMOZYGOTE; HUMANS; INFANT; LEUKOCYTES; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; SANDHOFF DISEASE; SEQUENCE DELETION; SPAIN; TAY-SACHS DISEASE; YOUNG ADULT;

EID: 84864528761     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.06.080     Document Type: Article

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