Mutational analysis in longest known survivor of mucopolysaccharidosis type VII

Human Genetics

Volumn 112, Issue 2, 2003, Pages 190-194

  Storch, Stephan ^a   Wittenstein, Birgit ^a   Islam, Rafiqul ^b   Ullrich, Kurt ^a   Sly, William S ^b   Braulke, Thomas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCURONIDASE; CHONDROITIN SULFATE; DERMATAN; GLYCOSAMINOGLYCAN; HEPARAN; LYSOSOME ENZYME; METHIONINE; PRIMER DNA;

ADULT; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOSYNTHESIS; CATALYSIS; CONTROLLED STUDY; DEATH; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; ENZYME DEGRADATION; ENZYME REGULATION; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; HAMSTER; HUMAN; K350N GENE; KIDNEY CELL; MISSENSE MUTATION; MUCOPOLYSACCHARIDOSIS TYPE 7; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; R577L GENE; SURVIVAL; ANIMAL; CASE REPORT; CELL LINE; CHEMISTRY; COMPARATIVE STUDY; CYTOLOGY; DOG; ENZYME STABILITY; ENZYMOLOGY; FEMALE; GENETIC TRANSFECTION; GENETICS; KIDNEY; METABOLISM; MIDDLE AGED; MOUSE; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; RAT; SERODIAGNOSIS; SITE DIRECTED MUTAGENESIS; SURVIVOR; WESTERN BLOTTING;

CRICETINAE;

ANIMALS; BLOTTING, WESTERN; CELL LINE; CRICETINAE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DOGS; ENZYME STABILITY; FEMALE; GLUCURONIDASE; HUMANS; KIDNEY; METHIONINE; MICE; MIDDLE AGED; MUCOPOLYSACCHARIDOSIS VII; MUTAGENESIS, SITE-DIRECTED; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRECIPITIN TESTS; RATS; SURVIVORS; TRANSFECTION;

EID: 0037315255     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0849-5     Document Type: Article

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