Publications:

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Investigative Ophthalmology & Visual Science

Wang, Yingwei Y; Sun, Wenmin W; Zhou, Jing J; Li, Xueqing X; Jiang, Yi Y; Li, Shiqiang S; Jia, Xiaoyun X; Xiao, Xueshan X; Ouyang, Jiamin J; Wang, Yueye Y; Zhou, Lin L; Long, Yuxi Y; Liu, Mengchu M; Li, Yongyu Y; Yi, Zhen Z; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2022-05-02

Variant appearance in text: ABCA4: 6394G>T; Glu2132*

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.pdf

View BVdb publication page

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

International Journal Of Molecular Sciences

Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2018-07-27

Variant appearance in text: ABCA4: 6394G>T

PubMed Link: 30060493

Variant Present in the following documents:

• Main text
• ijms-19-02196.pdf

View BVdb publication page