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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh, Leen; Alrashed, May; Anazi, Shamsa; Alkuraya, Hisham; Khan, Arif O; Al-Owain, Mohammed; Al-Zahrani, Jawahir; Al-Abdi, Lama; Hashem, Mais; Al-Tarimi, Salwa; Sebai, Mohammed-Adeeb; Shamia, Ahmed; Ray-Zack, Mohamed D; Nassan, Malik; Al-Hassnan, Zuhair N; Rahbeeni, Zuhair; Waheeb, Saad; Alkharashi, Abdullah; Abboud, Emad; Al-Hazzaa, Selwa A F; Alkuraya, Fowzan S.
Affiliation
  • Abu-Safieh L; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Genome Res ; 23(2): 236-47, 2013 Feb.
Article in En | MEDLINE | ID: mdl-23105016
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Full text: 1 Database: MEDLINE Main subject: Retinal Dystrophies / Exome / Mutation Limits: Humans Language: En Journal: Genome Res Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2013 Type: Article Affiliation country: Saudi Arabia
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Full text: 1 Database: MEDLINE Main subject: Retinal Dystrophies / Exome / Mutation Limits: Humans Language: En Journal: Genome Res Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2013 Type: Article Affiliation country: Saudi Arabia