A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy

著录项

• 来源
  《American journal of medical genetics, Part A》 |2021年第7期|共9页
• 作者

  Duan Ruizhi; Saadi Nebal Waill; Grochowski Christopher M.; Bhadila Ghalia; Faridoun Afnan; Mitani Tadahiro; Du Haowei; Fatih Jawid M.; Jhangiani Shalini N.; Akdemir Zeynep C.; Gibbs Richard A.; Pehlivan Davut; Posey Jennifer E.; Marafi Dana; Lupski James R.;

  展开▼
• 作者单位

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Univ Baghdad Coll Med Baghdad Iraq;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Univ Maryland Sch Dent Dept Adv Oral Sci &

  Therapeut Baltimore MD 21201 USA;

  Kuwait Univ Dept Gen Dent Practice Fac Dent Safat Kuwait;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Baylor Coll Med Human Genome Sequencing Ctr Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Room 604B Houston TX 77030 USA;

  展开▼
• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学遗传学;
• 关键词

  Alu/Alu-mediated rearrangement; CNV alleles; developmental and epileptic encephalopathy; genomic instability; homozygous deletion; SLC13A5;

  机译：Alu / Alu介导的重排;CNV等位基因;发育和癫痫性脑病;基因组不稳定性;纯合缺失;SLC13A5;