Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
September 11, 2013Human MutationOpen Access

Two Novel Mutations inABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

View Full Paper
Ask AI
Bookmark
Share

Authors

DCDong-Hui ChenOregon Health & Science UniversityANAlipi V. NaydenovVanderbilt UniversityJBJacqueline L. BlankmanSan Diego Biomedical Research Institute

Discussion

Loading...

Member takes

Implication

Key Points

Key points are not available for this paper at this time.

Cite This Study

Chen et al. (2013) studied this question.

synapsesocial.com/papers/6aa95293e4c74ea018879b06https://doi.org/10.1002/humu.22437
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients2005 · 98 citations
  2. 2Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12)2012 · 178 citations
  3. 3Direct visualization of serine hydrolase activities in complex proteomes using fluorescent active site-directed probes2001 · 281 citations