Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (vol 112, pg 160, 2014)

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

doi:10.1016/j.ymgme.2014.08.010

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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (vol 112, pg 160, 2014)

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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (vol 112, pg 160, 2014)

A. Morrone, K. L. Tylee, M. Al-Sayed, A. C. Brusius-Facchin, A. Caciotti, H. J. Church, M. J. Coll, K. Davidson, M. J. Fietz, L. Gort, …

Molecular genetics and metabolism, Vol.113(3), pp.237-237

01/11/2014

DOI: https://doi.org/10.1016/j.ymgme.2014.08.010

Abstract

Endocrinology & Metabolism

Genetics & Heredity

Life Sciences & Biomedicine

Medicine, Research & Experimental

Research & Experimental Medicine

Science & Technology

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Title: Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (vol 112, pg 160, 2014)
Creators - without role: A. Morrone - University of Florence
K. L. Tylee - Willink Biochemical Genetics, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital Oxford Road, Manchester, UK.
M. Al-Sayed - King Faisal Specialist Hospital & Research Centre
A. C. Brusius-Facchin - Hospital de Clínicas de Porto Alegre
A. Caciotti - Meyer Children's Hospital
H. J. Church - Willink Biochemical Genetics, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital Oxford Road, Manchester, UK.
M. J. Coll - Hospital Clínic de Barcelona
K. Davidson - BioMarin
M. J. Fietz - Women's and Children's Hospital
L. Gort - Hospital Clínic de Barcelona
M. Hegde - Emory University
F. Kubaski - Hospital de Clínicas de Porto Alegre
L. Lacerda - CHP, CGMJM, Unidade Bioquim Genet, Oporto, Portugal
F. Laranjeira - Centro de Genética Clínica
S. Leistner-Segal - Hospital de Clínicas de Porto Alegre
S. Mooney - Buck Institute for Research on Aging
S. Pajares - Hospital Clínic de Barcelona
L. Pollard - Greenwood Genetic Center
I. Ribeiro - Centro de Genética Clínica
R. Y. Wang - Children's Hospital of Orange County
N. Miller - Children's Hospital of Orange County
Publication Details: Molecular genetics and metabolism, Vol.113(3), pp.237-237
Publisher: Elsevier
Number of pages: 1
Identifiers: 9913214108331
Academic Unit: King Faisal University; Alfaisal University
Language: English
Resource Type: Journal article