Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five <i>CBS</i> mutations found in Pakistani homocystinuria patients-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients

Published:2023-11-16 Issue: Volume: Page:1-13
ISSN:1525-7770
Container-title:Nucleosides, Nucleotides & Nucleic Acids
language:en
Short-container-title:Nucleosides, Nucleotides & Nucleic Acids

Author:

Khalil Adila¹²,Khan Haq Nawaz¹²³,Wasim Muhammad¹²³,Ayesha Hina⁴,Awan Fazli Rabbi¹²^ORCID

Affiliation:

1. Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan

2. NIBGE College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan

3. Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan

4. Department of Pediatrics, Punjab Medical College, Faisalabad Medical University, Faisalabad, Pakistan

Funder

Diagnosis of treatable inborn metabolic disorders of intellectual disability

Publisher

Informa UK Limited

Subject

Genetics,Molecular Medicine,Biochemistry,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/15257770.2023.2280013

Reference28 articles.

1. Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

2. Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies

3. Seven novel genetic variants in a North Indian cohort with classical homocystinuria

4. Molecular neonatal screening for homocystinuria in the Qatari population

5. Newborn screening for homocystinuria: Irish and world experience

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP