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Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Lin, Yiming; Gao, Hongzhi; Lu, Bin; Zhou, Shuang; Zheng, Tianwen; Lin, Weihua; Zhu, Lin; Jiang, Mengyi; Fu, Qingliu.
Afiliación
  • Lin Y; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
  • Gao H; Department of Central Laboratory, 2nd Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian Province, China.
  • Lu B; Genuine Diagnostics Company Limited, 859 Shixiang West Road, Hangzhou, 310007, Zhejiang Province, China.
  • Zhou S; Department of Central Laboratory, 2nd Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian Province, China.
  • Zheng T; Department of Pediatrics, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
  • Lin W; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China.
  • Zhu L; Genuine Diagnostics Company Limited, 859 Shixiang West Road, Hangzhou, 310007, Zhejiang Province, China.
  • Jiang M; Genuine Diagnostics Company Limited, 859 Shixiang West Road, Hangzhou, 310007, Zhejiang Province, China. jiangmengyi@biosan.cn.
  • Fu Q; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, 362000, Fujian Province, China. wrightlym@sina.com.
BMC Med Genet ; 20(1): 110, 2019 06 17.
Article en En | MEDLINE | ID: mdl-31208364
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Argininosuccinato Sintasa / Empalme del ARN / Citrulinemia / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Argininosuccinato Sintasa / Empalme del ARN / Citrulinemia / Estudios de Asociación Genética Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: China