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A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Khan, Kamal; Mehmood, Sarmad; Liu, Chunyu; Siddiqui, Maimoona; Ahmad, Arsalan; Faiz, Belqees Yawar; Chioza, Barry A; Baple, Emma A; Ullah, Muhammad I; Akram, Zaineb; Satti, Humayoon S; Khan, Raees; Harlalka, Gaurav V; Jameel, Muhammad; Akram, Talia; Baig, Shahid M; Crosby, Andrew H; Hassan, Muhammad J; Zhang, Feng; Davis, Erica E; Khan, Tahir N.
Afiliação
  • Khan K; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.
  • Mehmood S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
  • Liu C; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan.
  • Siddiqui M; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
  • Ahmad A; Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan.
  • Faiz BY; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute for Biomedical and Pharmaceutical Technologies), Institute of Reproduction and Development, Fudan University, Shanghai, China.
  • Chioza BA; Division of Neurology, Shifa International Hospital, Shifa Tameer e Millat University, Islamabad, Pakistan.
  • Baple EA; Division of Neurology, Shifa International Hospital, Shifa Tameer e Millat University, Islamabad, Pakistan.
  • Ullah MI; Division of Neurology, Shifa International Hospital, Shifa Tameer e Millat University, Islamabad, Pakistan.
  • Akram Z; RILD Wellcome Wolfson Centre - Level 4, Royal Devon and Exeter NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
  • Satti HS; RILD Wellcome Wolfson Centre - Level 4, Royal Devon and Exeter NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
  • Khan R; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka, Saudi Arabia.
  • Harlalka GV; Stem Cell Research Laboratory, AFBMTC, CMH Medical Complex, Rawalpindi, Pakistan.
  • Jameel M; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
  • Akram T; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
  • Baig SM; RILD Wellcome Wolfson Centre - Level 4, Royal Devon and Exeter NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.
  • Crosby AH; Department of Pharmacology, Rajarshi Shahu College of Pharmacy, Malvihir, Buldana, Maharashtra, India.
  • Hassan MJ; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan.
  • Zhang F; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan.
  • Davis EE; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
  • Khan TN; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan.
Am J Med Genet A ; 188(2): 498-508, 2022 02.
Article em En | MEDLINE | ID: mdl-34697879
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Distrofia Muscular do Cíngulo dos Membros Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Distrofia Muscular do Cíngulo dos Membros Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos