A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.

Human mutation

Volumn 17, Issue 5, 2001, Pages 437-

  Alvarez Rodriguez A ^a   Triggs Raine, B ^a   Barros Nunez P ^a   Lozano, C M ^a  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE;

ARTICLE; CASE REPORT; CHROMOSOME 15; ENZYMOLOGY; FATALITY; GENETICS; HUMAN; INFANT; MALE; MEXICO; MISSENSE MUTATION; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; TAY SACHS DISEASE;

BETA-N-ACETYLHEXOSAMINIDASE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEXICO; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TAY-SACHS DISEASE;

MLCS; MLOWN;

EID: 0035344640     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1128     Document Type: Article

References (0)