ロード中...

Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing

Infantile Neuro axonal Dystrophy (INAD), is a rare inherited neurological disorder which affects nerve axons causing progressive loss of mental skills, muscular control and vision. The authors present a case of 5.8-y-old girl with INAD who was diagnosed after Next Generation Sequencing (NGS). She wa...

詳細記述

保存先:
書誌詳細
出版年:Indian J Pediatr
主要な著者: Goyal, Manisha, Bijarnia-Mahay, Sunita, Kingsmore, Stephen, Farrow, Emily, Saunders, Carol, Saxena, Renu, Verma, Ishwar C.
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4390426/
https://ncbi.nlm.nih.gov/pubmed/25348461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12098-014-1608-z
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!