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Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
Zaman, Qaiser; Iftikhar, Aiman; Rehman, Gauhar; Khan, Qadeem; Jan, Amin; Khan, Jamshid; Anas, Muhammad; Umair, Muhammad; Muthaffar, Osama Yousef; Abdulkareem, Angham Abdulrhman; Bibi, Fehmida; Naseer, Muhammad Imran; Jelani, Musharraf.
Afiliação
  • Zaman Q; Department of Zoology, Government Postgraduate College Dargai, Malakand, Dargai, Pakistan.
  • Iftikhar A; Higher Education Department, Peshawar, Khyber Pakhunkhwa, Pakistan.
  • Rehman G; Department of Zoology, Abdul Wali Khan University Mardan, Khyber Pakhtunkhwa, Pakistan.
  • Khan Q; Department of Zoology, Government Postgraduate College Dargai, Malakand, Dargai, Pakistan.
  • Najumuddin; Department of Zoology, Abdul Wali Khan University Mardan, Khyber Pakhtunkhwa, Pakistan.
  • Jan A; Department of Zoology, Government Postgraduate College Dargai, Malakand, Dargai, Pakistan.
  • Khan J; National Center for Bioinformatics, Quaid-I-Azam University, Islamabad, Pakistan.
  • Anas M; Department of Physiology, North-West School of Medicine Peshawar, Khyber Pakhtunkhwa, Pakistan.
  • Laiba; Department of Zoology, Government Postgraduate College Dargai, Malakand, Dargai, Pakistan.
  • Umair M; Department of Zoology, Government Postgraduate College Dargai, Malakand, Dargai, Pakistan.
  • Muthaffar OY; Department of Zoology, Government Postgraduate College Dargai, Malakand, Dargai, Pakistan.
  • Abdulkareem AA; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
  • Bibi F; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan.
  • Naseer MI; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Jelani M; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
J Gene Med ; 25(10): e3522, 2023 10.
Article em En | MEDLINE | ID: mdl-37119015
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cútis Laxa Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: J Gene Med Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Paquistão País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cútis Laxa Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: J Gene Med Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Paquistão País de publicação: Reino Unido