Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: Possible common origin of the prevalent c.459+5A>G mutation

Gene

Volumn 499, Issue 2, 2012, Pages 262-265

  Zampieri, Stefania ^a   Montalvo, Annalisa ^b   Blanco, Mariana ^c   Zanin, Irene ^a   Amartino, Hernan ^d   Vlahovicek, Kristian ^e   Szlago, Marina ^c   Schenone, Andrea ^c   Pittis, Gabriela ^b   Bembi, Bruno ^a   Dardis, Andrea ^a  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^c FESEN Laboratorio de Neuroquímica Dr Nestor A Chamoles ^*  (Argentina)

^d UNIVERSIDAD AUSTRAL   (Argentina)

^e UNIVERSITY OF ZAGREB   (Croatia)

Author keywords

GM2 gangliosidosis; Haplotype analysis; Mutational analysis

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

ALLELE; ARGENTINA; ARTICLE; CHILD (1-12); CLINICAL ARTICLE (5-50); COHORT ANALYSIS; FAMILY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HAPLOTYPE; HUMAN; INFANT (1M-1Y); INTRON; MALE; NEWBORN; PRESCHOOL CHILD (1-6); PRIORITY JOURNAL; TAY SACHS DISEASE;

CHILD; COHORT STUDIES; FEMALE; HEXOSAMINIDASE A; HUMANS; INFANT; MALE; MUTATION; TAY-SACHS DISEASE;

EID: 84860245335     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.03.022     Document Type: Article

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