Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia-Reference-Cited by-同舟云学术

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Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia

Published:2023-05 Issue:5 Volume:25 Page:284-294
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Luo Xiaomei^ORCID,Wang Ruifang,Sun Yu,Qiu Wenjuan,Lu Deyun,Wang Yu,Gong Zhuwen,Zhang Huiwen,Han Lianshu,Liang Lili,Gu Xuefan,Yu Yongguo,Xiao Bing^ORCID

Funder

Science and Technology Commission of Shanghai Municipality

National Key Research and Development Program of China

Natural Science Foundation of Shanghai

National Natural Science Foundation of China

Shanghai Municipal Health Commission

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference37 articles.

1. Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability;Anikster;Am J Hum Genet,2017

2. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies;Blau;Mol Genet Metab,2011

3. The genetic landscape and epidemiology of phenylketonuria;Hillert;Am J Hum Genet,2020

4. Phenylketonuria;van Spronsen;Nat Rev Dis Prim,2021

5. Phenylketonuria;Blau;Lancet,2010

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