Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients

Gene

Volumn 512, Issue 2, 2013, Pages 521-526

  Gaignard, Pauline ^a,b   Fagart, Jérôme ^c   Niemir, Natalia ^c,d   Puech, Jean Philippe ^a   Azouguene, Emilie ^a   Dussau, Jeanne ^a   Caillaud, Catherine ^a,c,d  

^a Institut Cochin   (France)

^b Laboratoire de Biochimie 1   (France)

^c INSERM   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

GM2 gangliosidosis; HEXB gene; Hexosaminidases; Mutation analysis; Sandhoff disease

Indexed keywords

ALANINE; BETA N ACETYLHEXOSAMINIDASE B; CYSTEINE; GLYCINE; THREONINE;

5' UNTRANSLATED REGION; ALLELE; ALTERNATIVE RNA SPLICING; AMINO TERMINAL SEQUENCE; ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; EXON; FAMILY; FRANCE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENOTYPE; HUMAN; INFANT; MISSENSE MUTATION; MOLECULAR MODEL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; RISK FACTOR; SANDHOFF DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; AMINO ACID SUBSTITUTION; BETA-HEXOSAMINIDASE BETA CHAIN; FEMALE; FRANCE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MALE; MUTATION; RNA SPLICE SITES; SANDHOFF DISEASE;

EID: 84870372835     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.124     Document Type: Article

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