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MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.
Alsubaie, Lamia; Alkhalaf, Randa; Aloraini, Taghrid; Amoudi, Manal; Swaid, Abdulrahman; Al Mutairi, Fuad; Alfadhel, Majid; Eyaid, Wafaa; Sewairi, Wafaa; Alfares, Ahmed.
Afiliação
  • Alsubaie L; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Alkhalaf R; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.
  • Aloraini T; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Amoudi M; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Swaid A; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Al Mutairi F; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Alfadhel M; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Eyaid W; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Sewairi W; King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Alfares A; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Ann Hum Genet ; 84(5): 370-379, 2020 09.
Article em En | MEDLINE | ID: mdl-32401353
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Febre Familiar do Mediterrâneo / Pirina / Frequência do Gene Tipo de estudo: Guideline Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Ann Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Febre Familiar do Mediterrâneo / Pirina / Frequência do Gene Tipo de estudo: Guideline Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Ann Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Arábia Saudita