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A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1

✍ Scribed by Nobutada Tachi; Sin Kikuchi; Naoki Kozuka; Azusa Nogami

Book ID
116824713
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
208 KB
Volume
32
Category
Article
ISSN
0887-8994

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πŸ“œ SIMILAR VOLUMES

Infantile spinal muscular atrophy with r
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
✍ Katja Grohmann; Raymonda Varon; Piroschka Stolz; Markus Schuelke; Catrin Janetzk πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 213 KB

## Abstract Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin μ‐binding protein 2 (__IGHMBP2__)