Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

Peters Plus Syndrome (PPS) is a rare autosomal recessive disease characterized by ocular defects, short stature, brachydactyly, characteristic facial features, developmental delay and other highly variable systemic defects. Classic PPS is caused by loss-of-function mutations in the B3GLCT gene encod...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: Weh, Eric, Takeuchi, Hideyuki, Muheisen, Sanaa, Haltiwanger, Robert S., Semina, Elena V.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2017
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5604996/
https://ncbi.nlm.nih.gov/pubmed/28926587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0184903
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