Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1-Reference-Cited by-同舟云学术

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

Published:2001-08-13 Issue:1 Volume:29 Page:75-77
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Grohmann Katja,Schuelke Markus,Diers Alexander,Hoffmann Katrin,Lucke Barbara,Adams Coleen,Bertini Enrico,Leonhardt-Horti Hajnalka,Muntoni Francesco,Ouvrier Robert,Pfeufer Arne,Rossi Rainer,Van Maldergem Lionel,Wilmshurst Jo M.,Wienker Thomas F.,Sendtner Michael,Rudnik-Schöneborn Sabine,Zerres Klaus,Hübner Christoph

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng703z.pdf

Reference27 articles.

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2. Lefebvre, S., Bürglen, L., Frézal, J., Munnich, A. & Melki, J. The role of the SMN gene in proximal spinal muscular atrophy. Hum. Mol. Genet. 7, 1531–1536 (1998).

3. Charroux, B. et al. Gemin3: a novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems. J. Cell Biol. 147, 1181–1193 (1999).

4. Strasswimmer, J. et al. Identification of survival motor neuron as a transcriptional activator-binding protein. Hum. Mol. Genet. 8, 1219–1226 (1999).

5. Campbell, L. et al. Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation? Hum. Mol. Genet. 9, 1093–1100 (2000).

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