المؤلفون: Smith, Thomas B, Kopajtich, Robert, Demain, Leigh A M, Rea, Alessandro, Thomas, Huw B, Schiff, Manuel, Beetz, Christian, Joss, Shelagh, Conway, Gerard S, Shukla, Anju, Yeole, Mayuri, Radhakrishnan, Periyasamy, Azzouz, Hatem, Ben Chehida, Amel, Elmaleh-Bergès, Monique, Glasgow, Ruth I C, Thompson, Kyle, Oláhová, Monika, He, Langping, Jenkinson, Emma M, Jahic, Amir, Belyantseva, Inna A, Barzik, Melanie, Urquhart, Jill E, O'Sullivan, James, Williams, Simon G, Bhaskar, Sanjeev S, Carrera, Samantha, Blakes, Alexander J M, Banka, Siddharth, Yue, Wyatt W, Ellingford, Jamie M, Houlden, Henry, Munro, Kevin J, Friedman, Thomas B, Taylor, Robert W, Prokisch, Holger, O'Keefe, Raymond T, Newman, William G

المصدر: Am J Hum Genet ; ISSN:1537-6605 ; Volume:112 ; Issue:1

مصطلحات موضوعية: DAP3, MRPS29, Perrault syndrome, leukodystrophy, mitochondria, mitoribosomal small subunit, mitoribosome, ovarian insufficiency, rare disease, sensorineural hearing loss

Relation: https://doi.org/10.1016/j.ajhg.2024.11.007; https://pubmed.ncbi.nlm.nih.gov/39701103

الاتاحة: https://doi.org/10.1016/j.ajhg.2024.11.007
https://pubmed.ncbi.nlm.nih.gov/39701103

المؤلفون: Smith, Thomas B, Kopajtich, Robert, Demain, Leigh A M, Rea, Alessandro, Thomas, Huw B, Schiff, Manuel, Beetz, Christian, Joss, Shelagh, Conway, Gerard S, Shukla, Anju, Yeole, Mayuri, Radhakrishnan, Periyasamy, Azzouz, Hatem, Ben Chehida, Amel, Elmaleh-Bergès, Monique, Glasgow, Ruth I C, Thompson, Kyle, Oláhová, Monika, He, Langping, Jenkinson, Emma M, Jahic, Amir, Belyantseva, Inna A, Barzik, Melanie, Urquhart, Jill E, O' Sullivan, James, Williams, Simon G, Bhaskar, Sanjeev S, Carrera, Samantha, Blakes, Alexander J M, Banka, Siddharth, Yue, Wyatt W, Ellingford, Jamie M, Houlden, Henry, Munro, Kevin J, Friedman, Thomas B, Taylor, Robert W, Prokisch, Holger, O'Keefe, Raymond T, Newman, William G

المصدر: medRxiv

مصطلحات موضوعية: DAP3, MRPS29, Perrault syndrome, leukodystrophy, mitochondria, mitoribosomal small subunit, mitoribosome, ovarian insufficiency, rare disease, sensorineural hearing loss

Relation: https://doi.org/10.1101/2024.08.19.24312079; https://pubmed.ncbi.nlm.nih.gov/39371131; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451657/

الاتاحة: https://doi.org/10.1101/2024.08.19.24312079
https://pubmed.ncbi.nlm.nih.gov/39371131
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451657/

المؤلفون: Department of Biochemistry and Molecular Biology, Health Science Center, University of Florida, Gainesville, FL 32610-0245, USA ( host institution ), O'Brien, Thomas W. ( author ), O'Brien, Bonnie J. ( author ), Norman, Ryan A. ( author )

مصطلحات موضوعية: kDa, MRP, MRPLs, MRPSs, r-proteins, rRNA, Human MRP genes, Mitochondrial ribosomal proteins, DAP3, MRPS29, Mitochondrial disease

وصف الملف: Pages 147-151

Relation: Gene; S0378-1119(05)00175-7; http://ufdc.ufl.edu/LS00519959/00001

الاتاحة: https://doi.org/10.1016/j.gene.2005.03.026
http://ufdc.ufl.edu/LS00519959/00001