Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease-Reference-Cited by-同舟云学术

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Published:2018-10-11 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Caciotti Anna,Tonin Rodolfo,Mort Matthew,Cooper David N.,Gasperini Serena,Rigoldi Miriam,Parini Rossella,Deodato Federica,Taurisano Roberta,Sibilio Michelina,Parenti Giancarlo,Guerrini Renzo,Morrone Amelia^ORCID

Funder

BioMarin Pharmaceutical

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0694-6.pdf

Reference35 articles.

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2. Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T. Mucopolysaccharidosis IV a: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5′-flanking region. Genomics. 1994;20(1):99–104.

3. O’Leary NA, Wright MW, Brister JR, Ciufo S, Haddad D, McVeigh R, Rajput B, Robbertse B, Smith-White B, Ako-Adjei D, et al. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res. 2016;44(D1):D733–45.

4. Aken BL, Achuthan P, Akanni W, Amode MR, Bernsdorff F, Bhai J, Billis K, Carvalho-Silva D, Cummins C, Clapham P, et al. Ensembl 2017. Nucleic Acids Res. 2017;45(D1):D635–42.

5. Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N et al: Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. Hum Mutat 1997, 10(5):368–375.

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