A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma
Ming Li1, Xunyi Dai, Ruhong Cheng
1Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 200092 Shanghai, China. aypyslm@163.com.
Acta Dermato-Venereologica
|October 29, 2013
Abstract
No abstract available in PubMed .
More Related Videos
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
3.3K
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
36.1K
Related Concept Videos
Pedigree Analysis
78.9K
Overview
78.9K
Pleiotropy
31.3K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.3K
Long-patch Base Excision Repair
6.3K
Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
6.3K
