Lessons learnt from a genetic disease registry in Hong Kong

被引：1

作者：

Lam, Stephen T. S. ^{[1
]}

To, C. H. ^{[2
]}

Leung, K. W. ^{[2
]}

Yip, S. P. ^{[3
]}

Lo, Ivan F. M. ^{[4
]}

Tsang, K. P. ^{[5
]}

机构：

[1] Hong Kong Sanat & Hosp, Dept Clin Genet Serv, Hong Kong, Peoples R China

[2] Hong Kong Polytech Univ, Sch Optometry, Hong Kong, Peoples R China

[3] Hong Kong Polytech Univ, Dept Hlth Technol & Informat, Hong Kong, Peoples R China

[4] Dept Hlth, Clin Genet Serv, Hong Kong, Peoples R China

[5] Retina Hong Kong, Hong Kong, Peoples R China

来源：

关键词：

CHINESE PATIENTS; MUTATIONS;

D O I：

10.12809/hkmj208659

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：226 / 228

页数：3

共 5 条

[1] [Anonymous], 2022, Retinitis Pigmentosa
[2] Retinitis Pigmentosa: Genes and Disease Mechanisms
Ferrari, Stefano
Di Iorio, Enzo
Barbaro, Vanessa
Ponzin, Diego
Sorrentino, Francesco S.
Parmeggiani, Francesco
[J]. CURRENT GENOMICS, 2011, 12 (04) : 238 - 249
[3] Novel PRPF31 and PRPH2 Mutations and Co-occurrence of PRPF31 and RHO Mutations in Chinese Patients With Retinitis Pigmentosa
Lim, King Poo
Yip, Shea Ping
Cheung, Suk Chun
Leung, Kam Wah
Lam, Stephen T. S.
To, Chi Ho
[J]. ARCHIVES OF OPHTHALMOLOGY, 2009, 127 (06) : 784 - 790
[4] National Center for Advancing Translational Sciences: Genetic and Rare Diseases Information Center, GARD
[5] Yip SP, 2007, MOL VIS, V13, P2183