Work

First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant

Year: 2018

Type: article

Study design: Case Report

Source: Clinica Chimica Acta

DOI: 10.1016/j.cca.2018.07.040

Authors: Nike Kwai Cheung Lau, Chor Kwan Ching, Hencher Han Chih Lee, Wai Kwong Mario Chak, Ng Kwan Shing, Neil A. Hanchard, Chloe Miu Mak

Institutions: Princess Margaret Hospital, Tuen Mun Hospital, Baylor College of Medicine

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2884858923

FWCI: 0.297

Cites: 14

Cited by: 4

Related to: 10