Molecular analysis of the β-glucuronidase gene: Novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

Human Genetics

Volumn 99, Issue 4, 1997, Pages 462-468

  Vervoort, Raf ^a   Buist, Neil R M ^b   Kleijer, Wim J ^c   Wevers, Ron ^d   Fryns, Jean Pierre ^e   Liebaers, Inge ^a   Lissens, Willy ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCURONIDASE; COMPLEMENTARY DNA; MESSENGER RNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA TRANSFECTION; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FETUS; FETUS HYDROPS; FIBROBLAST; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; INTRON; MUCOPOLYSACCHARIDOSIS TYPE 7; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYADENYLATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA DEGRADATION; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; BINDING SITES; DNA; EXONS; FIBROBLASTS; GENETIC HETEROGENEITY; GLUCURONIDASE; HUMANS; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VII; MUTATION; POLY A; POLYMORPHISM, GENETIC; RNA, MESSENGER;

EID: 0030944504     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050389     Document Type: Article

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