Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Savage
Sharon A
SA
Stewart
Brian J
BJ
Weksler
Babette B
BB
Baerlocher
Gabriela M
GM
Lansdorp
Peter M
PM
Chanock
Stephen J
SJ
Alter
Blanche P
BP
D000328:Adult; D001855:Bone Marrow Diseases / Q000235:genetics*; D004247:DNA / Q000235:genetics; D019871:Dyskeratosis Congenita / Q000235:genetics; D005091:Exons; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA; D019098:Telomerase / Q000235:genetics*
D004247:DNA; D019098:Telomerase