A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family-Reference-Cited by-同舟云学术

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A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family

Published:2019-08 Issue: Volume:150 Page:261-265
ISSN:0361-9230
Container-title:Brain Research Bulletin
language:en
Short-container-title:Brain Research Bulletin

Author:

Huang Yuan-Tao,Zhang Li-Hua,Li Mei-Fang,Cheng Lin,Zou Guo-Ying,Zhou Hong-Hao

Funder

Health and Family Planning Commission of Hunan Province

Natural Science Foundation of Hunan Province of China

Publisher

Elsevier BV

Subject

General Neuroscience

Reference25 articles.

1. Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing;David;Eur. J. Hum. Genet.,2016

2. Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification ("Fahr’s disease");de Oliveira;Front. Hum. Neurosci.,2013

3. Novel humoral prognostic markers in small-cell lung carcinoma: a prospective study;Gozzard;PLoS One,2015

4. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification;Hsu;Neurogenetics,2013

5. Clinical features of primary familial brain calcification in 17 families;Huang;Chin. Med. J.,2018

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1. The Genetics of Primary Familial Brain Calcification: A Literature Review;International Journal of Molecular Sciences;2023-06-29

2. Phosphate Transport in Epithelial and Nonepithelial Tissue;Physiological Reviews;2021-01-01

3. Roles Played by the Na+/Ca2+ Exchanger and Hypothermia in the Prevention of Ischemia-Induced Carrier-Mediated Efflux of Catecholamines into the Extracellular Space: Implications for Stroke Therapy;Neurochemical Research;2019-07-25

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