Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations-Reference-Cited by-同舟云学术

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Published:2014-06 Issue:2 Volume:112 Page:160-170
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Morrone A.,Tylee K.L.,Al-Sayed M.,Brusius-Facchin A.C.,Caciotti A.,Church H.J.,Coll M.J.,Davidson K.,Fietz M.J.,Gort L.,Hegde M.,Kubaski F.,Lacerda L.,Laranjeira F.,Leistner-Segal S.,Mooney S.,Pajares S.,Pollard L.,Ribeiro I.,Wang R.Y.,Miller N.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference70 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Subjective and objective assessment of hand function in Mucopolysaccharidosis IVa patients;Aslam;JIMD Rep.,2013

3. Mutational analysis of 85 Mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations;Beesley;Hum. Genet.,2001

4. Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome;Bunge;Hum. Mutat.,1997

5. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient;Caciotti;Hum. Genet.,2003

Cited by 49 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice;Molecular Therapy - Methods & Clinical Development;2023-12

2. Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks;International Journal of Molecular Sciences;2023-11-09

3. Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing;Frontiers in Genetics;2023-09-11

4. Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population;Scientific Reports;2023-04-27

5. Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles;Scientific Reports;2022-09-03