Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Human mutation

Volumn 26, Issue 3, 2005, Pages 282-

  Montalvo, Anna Lisa E ^a   Filocamo, Mirella ^a   Vlahovicek, Kristian ^a   Dardis, Andrea ^a   Lualdi, Susanna ^a   Corsolini, Fabio ^a   Bembi, Bruno ^a   Pittis, Maria Gabriela ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE;

ALLELE; ARTICLE; CHEMICAL STRUCTURE; CHILD; FEMALE; GENE FREQUENCY; GENETICS; HETEROZYGOTE; HUMAN; INFANT; ITALY; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; TAY SACHS DISEASE;

ALLELES; BETA-N-ACETYLHEXOSAMINIDASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HUMANS; INFANT; ITALY; MALE; MODELS, MOLECULAR; MUTATION; TAY-SACHS DISEASE;

EID: 33746752726     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9363     Document Type: Article

References (0)