Concepedia

Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing

Yao Yang, Haihong Liu, Xiaochun Chen, Ying Wang, Mancang Zhao, Xiyu He

Genomics · 2013 · 19 citations · 25 references

DOI

Concepts

References

25

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

, , +14

Recurrent <i>GNAS</i> Mutations Define an Unexpected Pathway for Pancreatic Cyst Development

Jian Wu, Hanno Matthaei, Anirban Maitra et al. · Science Translational Medicine · 2011 · 773 citations · Full text

, , +12

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

Yiping He, Jian Wu, Devin Dressman et al. · Nature · 2010 · 530 citations

, , +12

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 474 citations

, , +15

Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

Marc L. Reitman, Ajit Varki, Stuart Kornfeld · Journal of Clinical Investigation · 1981 · 321 citations · Full text

, , +17