Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Gene
; 526(2): 150-4, 2013 Sep 10.
Article
em En
| MEDLINE
| ID: mdl-23707223
Palavras-chave
DMEM; DNA complementary to RNA; Dulbecco's modified Eagle medium; GAGs; Hunter syndrome; IDS; MPS; MPS II; Min; Mutation analysis; PCR; Promoter region; Prot; RPM; Single Nucleotide Polymorphism Database; U/ml; UTR; base pairs; bp; cDNA; centimeters; cm; dbSNPs; del; deletion; glycosaminoglycans; h; hours; iduronate-2-sulfatase; kb; kilobase(s) or 1000 bp; mRNA; messenger ribonucleic acid; mg; micrograms per milliliters; microliters; milligrams; milliliters; minutes; ml; mucopolysaccharidosis; mucopolysaccharidosis type II; nanomoles; nmol; nt; nucleotides; picomoles; pmol; polymerase chain reaction; protein; rotation per minute; units per milliliters; untranslated region; µg/ml; µl
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Fases de Leitura Aberta
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Regiões Promotoras Genéticas
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Mucopolissacaridose II
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Iduronato Sulfatase
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article