Your browser doesn't support javascript.
loading
Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
Bodle, Ethan E; Zhu, Wenmiao; Velez-Bartolomei, Frances; Tesi-Rocha, Ana; Liu, Pengfei; Bernstein, Jonathan A.
Affiliation
  • Bodle EE; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California. Electronic address: Ethan.E.Bodle@kp.org.
  • Zhu W; Baylor Genetics, Houston, Texas.
  • Velez-Bartolomei F; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Tesi-Rocha A; Department of Neurology, Stanford University School of Medicine, Stanford, California.
  • Liu P; Baylor Genetics, Houston, Texas; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bernstein JA; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
Pediatr Neurol ; 114: 16-20, 2021 01.
Article in En | MEDLINE | ID: mdl-33189025
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Respiratory Distress Syndrome, Newborn / Transcription Factors / Muscular Atrophy, Spinal / DNA-Binding Proteins Type of study: Diagnostic_studies Limits: Humans / Infant / Male Language: En Journal: Pediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2021 Document type: Article
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Respiratory Distress Syndrome, Newborn / Transcription Factors / Muscular Atrophy, Spinal / DNA-Binding Proteins Type of study: Diagnostic_studies Limits: Humans / Infant / Male Language: En Journal: Pediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2021 Document type: Article