Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family

Pediatrics International

Volumn 45, Issue 1, 2003, Pages 16-22

  Sinici, Incilay ^a   Özkara, H Asuman ^a   Topçu, Meral ^a   Ciliv, Gönenç ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

B1 variant; Exon 10 mutation; Hexosaminidase A

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVE SITE; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOGENATE; HOMOZYGOSITY; HUMAN; HUMAN CELL; ION EXCHANGE CHROMATOGRAPHY; LEUKOCYTE; MALE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TAY SACHS DISEASE; THERMOSTABILITY;

BETA-N-ACETYLHEXOSAMINIDASE; CHROMATOGRAPHY, ION EXCHANGE; EXONS; FATAL OUTCOME; GLYCOPROTEINS; HUMANS; INFANT; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SAPOSINS; SEQUENCE ANALYSIS, DNA; SPHINGOLIPID ACTIVATOR PROTEINS; TAY-SACHS DISEASE; TURKEY;

EID: 0037319607     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2003.01669.x     Document Type: Article

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