GALNSmutations in Indian patients with mucopolysaccharidosis IVA

Five novel mutations ofGALNSin Korean patients with mucopolysaccharidosis IVA

(2013) Hyung-Doo Park et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

(2013) Vũ Chí Dũng et al.   MOLECULAR GENETICS AND METABOLISM

Analysis of theWISP3gene in Indian families with progressive pseudorheumatoid dysplasia

(2012) Ashwin Dalal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

(2012) Yadilette Rivera-Colón et al.   JOURNAL OF MOLECULAR BIOLOGY

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

(2012) Sonia Pajares et al.   MOLECULAR GENETICS AND METABOLISM

PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees

(2012) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Hansa: An automated method for discriminating disease and neutral human nsSNPs

(2011) Vishal Acharya et al.   HUMAN MUTATION

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations

(2010) Zheng Wang et al.   JOURNAL OF HUMAN GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Growth charts for patients affected with Morquio A disease

(2008) Adriana M. Montaño et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

In silico analysis of missense substitutions using sequence-alignment based methods

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION