[Splicing abnormalities caused by a novel mutation in the <i>PHKA2</i> gene in children with glycogen storage disease type IX].

Zhang, Z H; Zheng, B X; Zhuo, Y J; Jin, Y; Liu, Z F; Zheng, Y C

[Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX].

Zhang, Z H; Zheng, B X; Zhuo, Y J; Jin, Y; Liu, Z F; Zheng, Y C.

Affiliation

Zhang ZH; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
Zheng BX; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
Zhuo YJ; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
Jin Y; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
Liu ZF; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
Zheng YC; Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.

Zhonghua Gan Zang Bing Za Zhi ; 31(4): 428-432, 2023 Apr 20.

Article in Zh | MEDLINE | ID: mdl-37248983

Subject(s)
Key words

Aberrant RNA splicing; Glycogen storage disease type IX; Next-generation panel sequencing; PHKA2 gene

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type of study: Prognostic_studies Limits: Child / Female / Humans / Male Language: Zh Journal: Zhonghua Gan Zang Bing Za Zhi Journal subject: GASTROENTEROLOGIA Year: 2023 Document type: Article Affiliation country: China

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