A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase gene

Human Genetics

Volumn 103, Issue 6, 1998, Pages 686-693

  Vervoort, Raf ^a,c   Gitzelmann, Richard ^b   Lissens, Willy ^a   Liebaers, Inge ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCURONIDASE; MESSENGER RNA;

ALU SEQUENCE; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; GENE MUTATION; HUMAN; INTRON; MUCOPOLYSACCHARIDOSIS TYPE 7; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALU ELEMENTS; BASE SEQUENCE; BETA-GLUCOSIDASE; EXONS; FATHERS; GENOTYPE; HETEROZYGOTE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VII; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA SPLICING; SEQUENCE ANALYSIS, DNA;

EID: 0032406569     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050892     Document Type: Article

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