(Q34979383)
Statements
1 reference
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome (English)
1 reference
Kenneth Offit
1 reference
Kevin Jacobs
1 reference
Bari J Ballew
1 reference
Saurav De
1 reference
Grzegorz Sarek
1 reference
Jean-Baptiste Vannier
1 reference
Trudy N Small
1 reference
Richard O'Reilly
1 reference
Chris Manschreck
1 reference
Megan M Harlan Fleischut
1 reference
Liying Zhang
1 reference
John Sullivan
1 reference
Kelly Stratton
1 reference
Neelam Giri
1 reference
Blanche P Alter
1 reference
Joseph Boland
1 reference
Laurie Burdett
1 reference
Simon J Boulton
1 reference
John H J Petrini
1 reference
29 August 2013
1 reference
1 reference
9
1 reference
8
1 reference
e1003695
1 reference
29 August 2013
1 reference
ImageQuant TL
2 references
1 reference
Identifiers
1 reference
1 reference
1 reference