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Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.
Fozia, Fozia; Shah, Khadim; Nazli, Rubina; Khan, Sher Alam; Ahmad, Ijaz; Mohammad, Noor; Khan, Saadullah; Alotaibi, Amal.
Afiliação
  • Fozia F; Department of Biochemistry, Institute of Basic Medical Sciences (IBMS), Khyber Medical University (KMU), Peshawar, Khyber Pakhtunkhwa, Pakistan.
  • Shah K; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Nazli R; Department of Biotechnology, COSMATS University Islamabad, Abbottabad Campus, Abbottabad, Khyber Pakhtunkhwa, Pakistan.
  • Khan SA; Department of Biochemistry, Institute of Basic Medical Sciences (IBMS), Khyber Medical University (KMU), Peshawar, Khyber Pakhtunkhwa, Pakistan.
  • Ahmad I; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Mohammad N; Department of Chemistry, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Alotaibi A; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
J Clin Lab Anal ; 36(1): e24127, 2022 Jan.
Article em En | MEDLINE | ID: mdl-34877714
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arritmias Cardíacas / Doenças dos Gânglios da Base / Proteínas Nucleares / Complexos Ubiquitina-Proteína Ligase / Diabetes Mellitus / Alopecia / Hipogonadismo / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: J Clin Lab Anal Assunto da revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Paquistão
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arritmias Cardíacas / Doenças dos Gânglios da Base / Proteínas Nucleares / Complexos Ubiquitina-Proteína Ligase / Diabetes Mellitus / Alopecia / Hipogonadismo / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: J Clin Lab Anal Assunto da revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Paquistão