Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with mucopolysaccharidosis type II revealed by a rapid PCR-based method

Human Mutation

Volumn 25, Issue 5, 2005, Pages 491-497

  Lualdi, Susanna ^a   Regis, Stefano ^a   Di Rocco, Maja ^a   Corsolini, Fabio ^a   Stroppiano, Marina ^a   Antuzzi, Daniela ^b   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

Author keywords

Carrier detection; Gene conversion; Hunter syndrome; IDS; IDS2; IDSP1; Inversion; MPS2; Pseudogene; Recombination

Indexed keywords

COMPLEMENTARY DNA; IDURONATE 2 SULFATASE;

ARTICLE; CHROMOSOME BREAKAGE; CHROMOSOME INVERSION; CLINICAL ARTICLE; CONTROLLED STUDY; GENE CONVERSION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC RECOMBINATION; GENETIC TRAIT; HETEROZYGOTE DETECTION; HUMAN; HUNTER SYNDROME; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOPROTEINS; HETEROZYGOTE DETECTION; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS II; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PSEUDOGENES; RECOMBINATION, GENETIC;

EID: 18744388869     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20165     Document Type: Article

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