Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Authors

F. Sperb-Ludwig, Universidad Federal do Rio Grande do Sul
T. Alegra, Universidad Federal do Rio Grande do Sul
R. V. Velho, Universidad Federal do Rio Grande do Sul
N. Ludwig, Hospital de Clinicas de Porto Alegre
C. A. Kim, Universidade de Sao Paulo
F. Kok, Mendelics Genomic Analysis, Sao Paulo
J. P. Kitajima, Mendelics Genomic Analysis, Sao Paulo
E. van Meel, Washington University School of Medicine in St. Louis
S. Kornfeld, Washington University School of Medicine in St. LouisFollow
M. G. Burin, Medical Genetics Service, HCPA
I. V.D. Schwartz, Universidad Federal do Rio Grande do Sul

Journal

Molecular Genetics and Metabolism Reports

Publication Date

2015

Volume

2

Inclusive Pages

34-37

Document Type

Open Access Publication

DOI

10.1016/j.ymgmr.2014.12.001

Rights and Permissions

Sperb-Ludwig, F., et al (2015). Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype. Molecular Genetics and Metabolism Reports, 2, 34-37. DOI: 10.1016/j.ymgmr.2014.12.001

Recommended Citation

Sperb-Ludwig, F.; Alegra, T.; Velho, R. V.; Ludwig, N.; Kim, C. A.; Kok, F.; Kitajima, J. P.; van Meel, E.; Kornfeld, S.; Burin, M. G.; and Schwartz, I. V.D., "Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype." Molecular Genetics and Metabolism Reports. 2, 34-37. (2015).
https://digitalcommons.wustl.edu/open_access_pubs/3736