Loading…

Novel mutation in EFCAB7 alters expression and interaction of Ellis–van Creveld ciliary proteins

Saved in:

Bibliographic Details
Published in:	Congenital anomalies 2019-03, Vol.59 (2), p.49-50
Main Authors:	Nguyen, Tran Quynh Nhu, Doan, Nguyen Minh Thien, Trinh, Huu Tung, Mizuguchi, Masashi
Format:	Article
Language:	English
Subjects:	Abnormalities, Multiple - genetics Abnormalities, Multiple - metabolism Abnormalities, Multiple - pathology Calcium-Binding Proteins - genetics Calcium-Binding Proteins - metabolism Cloning, Molecular Ellis-Van Creveld Syndrome - genetics Ellis-Van Creveld Syndrome - metabolism Ellis-Van Creveld Syndrome - pathology Escherichia coli - genetics Escherichia coli - metabolism Gene Expression Genetic Vectors - chemistry Genetic Vectors - metabolism HEK293 Cells Heterozygote Humans Limb Deformities, Congenital - genetics Limb Deformities, Congenital - metabolism Limb Deformities, Congenital - pathology Mutation Mutation, Missense Pedigree Protein Binding Protein Interaction Domains and Motifs Proteins Proteins - genetics Proteins - metabolism Recombinant Proteins - chemistry Recombinant Proteins - genetics Recombinant Proteins - metabolism Tooth Abnormalities - genetics Tooth Abnormalities - metabolism Tooth Abnormalities - pathology Transfection
Citations:	Items that this one cites Items that cite this one
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!