Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene

1993 ◽  
Vol 92 (2) ◽  
Author(s):  
Cordula Steglich ◽  
Susanna Bunge ◽  
Theo Hulsebos ◽  
Michael Beck ◽  
NielsJ. Brandt ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii

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 ◽  
2013 ◽  
Vol 526 (2) ◽  
pp. 150-154 ◽  
Author(s):  
Ana Carolina Brusius-Facchin ◽  
Luiza Abrahão ◽  
Ida Vanessa Doederlein Schwartz ◽  
Charles Marques Lourenço ◽  
Emerson Santana Santos ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Promoter Region ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Genomic Alterations ◽  
Coding Sequence

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene

2001 ◽  
Vol 18 (2) ◽  
pp. 164-165 ◽  
Author(s):  
Mirella Filocamo ◽  
Gloria Bonuccelli ◽  
Fabio Corsolini ◽  
Raffaella Mazzotti ◽  
Roberto Cusano ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
New Mutations

scholarly journals Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II

2011 ◽  
Vol 6 (1) ◽  
Author(s):  
Latifa Chkioua ◽  
Souhir Khedhiri ◽  
Salima Ferchichi ◽  
Rémy Tcheng ◽  
Henda Chahed ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Tunisian Patients

scholarly journals Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay

2017 ◽  
Vol 13 (6) ◽  
pp. 2989-2996
Author(s):  
Lukana Ngiwsara ◽  
Kitiwan Rojnueangnit ◽  
Duangrurdee Wattanasirichaigoon ◽  
Thipwimol Tim-Aroon ◽  
Phannee Sawangareetrakul ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Mrna Decay ◽  
Mucopolysaccharidosis Type ◽  
The Novel ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Nonsense Mediated Mrna Decay

HMI-203: Gene therapy developmental candidate for mucopolysaccharidosis type II (MPS II), or Hunter syndrome

2021 ◽  
Vol 132 ◽  
pp. S147
Author(s):  
Kruti Patel ◽  
Laura Smith ◽  
Tania Seabrook ◽  
Alec Tzianabos ◽  
Lindsay Schulman ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Hunter Syndrome ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Mps Ii
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