Modulation of PC1/3 activity by a rare double-site homozygous mutation.

Ni, Yanyan; Chen, Xiangxiang; Sun, Yi; Pan, Jiarong; Tang, Chao; Yuan, Tianming

Ni, Yanyan; Chen, Xiangxiang; Sun, Yi; Pan, Jiarong; Tang, Chao; Yuan, Tianming.

Afiliación

Ni Y; Department of Neonatology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Chen X; Department of Neonatology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Sun Y; Department of Neonatology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Pan J; Department of Neonatology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Tang C; National Clinical Research Center for Child Health of the Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Yuan T; Department of Neonatology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Front Pediatr ; 10: 1026707, 2022.

Article en En | MEDLINE | ID: mdl-36389395

Palabras clave

PCSK1; diarrhea; endocrine system diseases; hypothyroidism; metabolic acidosis; polyuria; proprotein convertase 1/3 deficiency

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza

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