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Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.
Zou, Minjing; Guven, Ayla; BinEssa, Huda A; Al-Rijjal, Roua A; Meyer, Brian F; Alzahrani, Ali S; Shi, Yufei.
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  • Zou M; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Guven A; Pediatric Endocrinology Clinic, Zeynep Kamil Women and Children Hospital, University of Health Science, Istanbul, Turkey.
  • BinEssa HA; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Al-Rijjal RA; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Meyer BF; Pediatric Endocrinology Clinic, Zeynep Kamil Women and Children Hospital, University of Health Science, Istanbul, Turkey.
  • Alzahrani AS; Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Shi Y; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Front Genet ; 11: 607517, 2020.
Article en En | MEDLINE | ID: mdl-33329754
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Front Genet Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Front Genet Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita