文献

J-GLOBAL ID：201302242561248646   整理番号：13A1701257

NALCNの変異は,重度の低血圧症,会話異常と認識遅延を有する常染色体性劣性症候群を引き起こす

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay

著者 (16件)： AL-SAYED Moeenaldeen D. (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  AL-ZAIDAN Hamad (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  KENANA Rosan (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  AL-YAFEE Yusra (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  QARI Alya (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  ALBAKHEET Albandary (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  HAKAMI Hana (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  AL-DOSARY Mazhor (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  AL-SHEDDI Tarfa (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  KAYA Namik (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  COLAK Dilek (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  AL-MUHEIZA Muhammed (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  AL-QUBBAJ Wafa (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  AL-HINDI Hindi (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  LAKMACHE Yamina (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU) ,  GHAZIUDDIN Muhammad (King Faisal Specialist Hospital and Res. Center, Riyadh, SAU)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 93  号： 4  ページ： 721-726  発行年： 2013年 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD)  言語： 英語 (EN)

タイトルに関連する用語 (6件)： 変異 ,  低血圧症 ,  会話 ,  遅延 ,  常染色体 ,  症候群