Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions

Human Mutation

Volumn 14, Issue 6, 1999, Pages 471-476

  Karsten, Stanislav ^a   Voskoboeva, Elena ^b   Krasnopolskaja, Xcenia ^b   Bondeson, Marie Louise ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

Author keywords

Genetic rearrangement; Hunter syndrome; IDS; Iduronate 2 sulfatase; MPS II; Mucopolysaccharidosis type II; Nonhomologous recombination

Indexed keywords

DNA; IDURONATE 2 SULFATASE;

ARTICLE; CASE REPORT; CHROMOSOME INVERSION; CONTROLLED STUDY; EXON; GENE; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; HUMAN; HUMAN CELL; INTRON; MUCOPOLYSACCHARIDOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

BASE SEQUENCE; BLOTTING, SOUTHERN; CHILD, PRESCHOOL; DNA; DNA PRIMERS; EXONS; GENE DUPLICATION; GENE REARRANGEMENT; HUMANS; IDURONATE SULFATASE; INTRONS; INVERSION, CHROMOSOME; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS II; MUTATION; RECOMBINATION, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 0032795732     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199912)14:6<471::AID-HUMU5>3.0.CO;2-5     Document Type: Article

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