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Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
Ali, Ghazanfar; Foo, Jia Nee; Nasir, Abdul; Chang, Chu-Hua; Chew, Elaine GuoYan; Latif, Zahid; Azeem, Zahid; Ain-Ul-Batool, Syeda; Kazmi, Syed Akif Raza; Awan, Naheed Bashir; Khan, Abdul Hameed; Rehman, Fazal-Ur-; Khalid, Madiha; Wali, Abdul; Sarwar, Samina; Akhtar, Wasim; Ahmed Abbasi, Ansar; Nisar, Rameez.
Afiliación
  • Ali G; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
  • Sadia; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
  • Foo JN; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232.
  • Nasir A; Human Genetics, Genome Institute of Singapore, A∗STAR, 60 Biopolis Street, Singapore 138672.
  • Chang CH; Molecular Science and Technology, Ajou University, Suwon, Republic of Korea.
  • Chew EG; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232.
  • Latif Z; Human Genetics, Genome Institute of Singapore, A∗STAR, 60 Biopolis Street, Singapore 138672.
  • Azeem Z; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232.
  • Ain-Ul-Batool S; Human Genetics, Genome Institute of Singapore, A∗STAR, 60 Biopolis Street, Singapore 138672.
  • Kazmi SAR; Department of Zoology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
  • Awan NB; Department of Biochemistry/Molecular Biology AJK Medical College, Muzaffarabad, Pakistan.
  • Khan AH; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
  • Rehman FU; Department of Chemistry Government College University Lahore, Pakistan.
  • Khalid M; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
  • Wali A; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
  • Sarwar S; Department of Microbiology, Faculty of Life Sciences, University of Balochistan, Quetta, Pakistan.
  • Akhtar W; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
  • Ahmed Abbasi A; Department of Biotechnology, Women University of Azad Kashmir Bagh, 12500, Pakistan.
  • Nisar R; Department of Biotechnology, Faculty of Life Sciences and Informatics, BUITEMS, 87100 Quetta, Pakistan.
Biomed Res Int ; 2021: 6626015, 2021.
Article en En | MEDLINE | ID: mdl-33688495
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Linaje / Proteínas / Mutación Missense / Síndrome de Bardet-Biedl / Homocigoto Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Biomed Res Int Año: 2021 Tipo del documento: Article País de afiliación: Pakistán
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Linaje / Proteínas / Mutación Missense / Síndrome de Bardet-Biedl / Homocigoto Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Biomed Res Int Año: 2021 Tipo del documento: Article País de afiliación: Pakistán