Work

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing

Year: 2014

Type: article

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2014.10.004

Authors: Yan-yan Cao, Yu-jin Qu, Fang Song, Ting Zhang, Jin-li Bai, Yu-wei Jin, Hong Wang

Institution: Capital Institute of Pediatrics

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2068080369

FWCI: 1.786

Cites: 16

Cited by: 26

Related to: 10