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A functional study for verifying the pathogenicity of a TRPM6 variant of uncertain significance: A novel non-canonical splicing-site variant in primary hypomagnesemia with secondary hypocalcemia.
Wang, Ping; Qian, Ying; Gu, Chunyu; Zhi, Xiufang; Pu, Linjie; Yan, Dandan; Shu, Jianbo; Lv, Ling; Cai, Chunquan.
Afiliação
  • Wang P; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, No. 238 Longyan Road, Beichen District, Tianjin 300134, Chi
  • Qian Y; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Department of Endocrinology, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen
  • Gu C; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, No. 238 Longyan Road, Beichen District, Tianjin 300134, Chi
  • Zhi X; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, No. 238 Longyan Road, Beichen District, Tianjin 300134, Chi
  • Pu L; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, No. 238 Longyan Road, Beichen District, Tianjin 300134, Chi
  • Yan D; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, No. 238 Longyan Road, Beichen District, Tianjin 300134, Chi
  • Shu J; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, No. 238 Longyan Road, Beichen District, Tianjin 300134, Chi
  • Lv L; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Department of Endocrinology, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen
  • Cai C; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No. 238 Longyan Road, Beichen District, Tianjin 300134, China; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, No. 238 Longyan Road, Beichen District, Tianjin 300134, Chi
Clin Chim Acta ; 523: 469-475, 2021 Dec.
Article em En | MEDLINE | ID: mdl-34755648
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Transporte Tubular Renal / Canais de Cátion TRPM / Hipocalcemia / Deficiência de Magnésio Tipo de estudo: Screening_studies Limite: Child / Humans Idioma: En Revista: Clin Chim Acta Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Transporte Tubular Renal / Canais de Cátion TRPM / Hipocalcemia / Deficiência de Magnésio Tipo de estudo: Screening_studies Limite: Child / Humans Idioma: En Revista: Clin Chim Acta Ano de publicação: 2021 Tipo de documento: Article