The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts
Abstract Background Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in the beta-crystalline gene CRYBA1 has been reported in several differen...
Saved in:
Main Authors: | Dan Li (Author), Qinghe Jing (Author), Yongxiang Jiang (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2019-09-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family
by: Muhammad Ajmal, et al.
Published: (2017) -
Identification and functional validation of a novel pathogenic POT1 germline variant p.G95V in familial melanoma
by: Farrah Bakr, et al.
Published: (2024) -
Characterization and Modeling of the Ratcheting Behavior of the Ferritic-Martensitic Steel P91
by: Zhang, Kuo
Published: (2017) -
Novel mutations in HSF4 cause congenital cataracts in Chinese families
by: Zongfu Cao, et al.
Published: (2018) -
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report
by: Jing Chen, et al.
Published: (2017)