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Details on Person A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome
| Class:Id | LiteratureReference:9671168 |
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| _displayName | A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome |
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| _timestamp | 2019-12-18 21:31:54 |
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| author | [Person:9671183] Ballew, Bari J
[Person:9671184] Joseph, Vijai
[Person:9671157] De, Saurav
[Person:9671173] Sarek, Grzegorz
[Person:5686192] Vannier, Jean-Baptiste
[Person:9671158] Stracker, Travis
[Person:9671160] Schrader, Kasmintan A
[Person:9671161] Small, Trudy N
[Person:9671185] O'Reilly, Richard
[Person:9671171] Manschreck, Chris
[Person:9671175] Harlan Fleischut, Megan M
[Person:8869315] Zhang, Liying
[Person:9671182] Sullivan, John
[Person:9671162] Stratton, Kelly
[Person:9671170] Yeager, Meredith
[Person:9671159] Jacobs, Kevin
[Person:9671179] Giri, Neelam
[Person:3276578] Alter, Blanche P
[Person:9671166] Boland, Joseph
[Person:9671177] Burdett, Laurie
[Person:9671186] Offit, Kenneth
[Person:2564750] Boulton, Simon J
[Person:9671178] Savage, Sharon A
[Person:9671165] Petrini, John H J |
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| created | [InstanceEdit:9671169] Orlic-Milacic, Marija, 2019-12-18 |
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| journal | PLoS Genet. |
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| pages | e1003695 |
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| pubMedIdentifier | 24009516 |
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| title | A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome |
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| volume | 9 |
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| year | 2013 |
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| (literatureReference) | [Summation:174908] Studies in yeast and human cells indicate that recruitment o... |
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