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Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.
Alrayes, Nuha; Aziz, Abdul; Ullah, Farman; Ishfaq, Muhammad; Jelani, Musharraf; Wali, Abdul.
Afiliação
  • Alrayes N; Faculty of Applied Medical Science, King Abdulaziz University, Jeddah, 21589, Saudi Arabia.
  • Aziz A; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Ullah F; Department of Computer Science and Bioinformatics, Khushal Khan Khattak University Karak, Khyber-Pakhtunkhwa, Pakistan.
  • Ishfaq M; Department of Computer Science and Bioinformatics, Khushal Khan Khattak University Karak, Khyber-Pakhtunkhwa, Pakistan.
  • Jelani M; Centre for Omic Sciences, Islamia College Peshawar, Khyber-Pakhtunkhwa, Pakistan.
  • Wali A; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
J Gene Med ; 22(1): e3143, 2020 01.
Article em En | MEDLINE | ID: mdl-31750994
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deformidades Congênitas dos Membros / Sindactilia / Mutação de Sentido Incorreto / Proteínas Relacionadas a Receptor de LDL Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deformidades Congênitas dos Membros / Sindactilia / Mutação de Sentido Incorreto / Proteínas Relacionadas a Receptor de LDL Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article