A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract

Min Sun; Chunlin Chen; Shengping Hou; Xue Li; Huan Wang; Jiaxing Zhou; Xi Chen; Pei Liu; Aize Kijlstra; Sen Lin; Jian Ye

doi:10.1002/humu.23696

A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract

Min Sun, Chunlin Chen, Shengping Hou, Xue Li, Huan Wang, Jiaxing Zhou, Xi Chen, Pei Liu, Aize Kijlstra, Sen Lin^*, Jian Ye^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	380-391
Number of pages	12
Journal	Human Mutation
Volume	40
Issue number	4
DOIs	https://doi.org/10.1002/humu.23696
Publication status	Published - Apr 2019

Keywords

apoptosis
autosomal dominant congenital cataract
lens epithelial cell
linkage analysis
PANK4
whole-exome sequencing
COENZYME-A
KINASE
VARIANT
NEURODEGENERATION
AGGREGATION
FRAMEWORK
GENETICS
PATIENT
GLUCOSE
RETINA

Access to Document

10.1002/humu.23696

Cite this

@article{70a6f630bd3f42fa873de411c9bcb62f,

title = "A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract",

keywords = "apoptosis, autosomal dominant congenital cataract, lens epithelial cell, linkage analysis, PANK4, whole-exome sequencing, COENZYME-A, KINASE, VARIANT, NEURODEGENERATION, AGGREGATION, FRAMEWORK, GENETICS, PATIENT, GLUCOSE, RETINA",

author = "Min Sun and Chunlin Chen and Shengping Hou and Xue Li and Huan Wang and Jiaxing Zhou and Xi Chen and Pei Liu and Aize Kijlstra and Sen Lin and Jian Ye",

year = "2019",

month = apr,

doi = "10.1002/humu.23696",

language = "English",

volume = "40",

pages = "380--391",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley",

number = "4",

}

TY - JOUR

T1 - A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract

AU - Sun, Min

AU - Chen, Chunlin

AU - Hou, Shengping

AU - Li, Xue

AU - Wang, Huan

AU - Zhou, Jiaxing

AU - Chen, Xi

AU - Liu, Pei

AU - Kijlstra, Aize

AU - Lin, Sen

AU - Ye, Jian

PY - 2019/4

Y1 - 2019/4

KW - apoptosis

KW - autosomal dominant congenital cataract

KW - lens epithelial cell

KW - linkage analysis

KW - PANK4

KW - whole-exome sequencing

KW - COENZYME-A

KW - KINASE

KW - VARIANT

KW - NEURODEGENERATION

KW - AGGREGATION

KW - FRAMEWORK

KW - GENETICS

KW - PATIENT

KW - GLUCOSE

KW - RETINA

U2 - 10.1002/humu.23696

DO - 10.1002/humu.23696

M3 - Article

C2 - 30585370

VL - 40

SP - 380

EP - 391

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 4

ER -