Eight novel mutations in the HEXA gene

Genetics in Medicine

Volumn 4, Issue 3, 2002, Pages 158-161

  McGinniss, Matthew J ^a,b,c   Brown, David H ^a,b   Fulwiler, Andrea ^b   Marten, Molly ^b   Lim Steele, Joyce S T ^a   Kaback, Michael M ^a  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c SEQUENOM INC   (United States)

Author keywords

GM2 gangliosidosis; HEXA gene; Tay Sachs disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; DNA; BETA N ACETYLHEXOSAMINIDASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CARRIER; ELECTROPHORESIS; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; NUCLEOTIDE SEQUENCE; SINGLE STRAND CONFORMATION POLYMORPHISM; TAY SACHS DISEASE; UNITED STATES; ENZYMOLOGY; GENETICS; JEW; MUTATION;

BETA-N-ACETYLHEXOSAMINIDASE; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; JEWS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TAY-SACHS DISEASE;

EID: 1842836363     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200205000-00010     Document Type: Article

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