1 Ocak 2018 Dergi makalesi Açık Erişim

Wooderchak-Donahue, Whitney L.; McDonald, Jamie; Farrell, Andrew; Akay, Gulsen; Velinder, Matt; Johnson, Peter; VanSant-Webb, Chad; Margraf, Rebecca; Briggs, Eric; Whitehead, Kevin J.; Thomson, Jennifer; Lin, Angela E.; Pyeritz, Reed E.; Marth, Gabor; Bayrak-Toydemir, Pinar

BibTeX

@article{wooderchak_donahue_whitney_l_2018_29391,
  author       = {Wooderchak-Donahue, Whitney L. and
                  McDonald, Jamie and
                  Farrell, Andrew and
                  Akay, Gulsen and
                  Velinder, Matt and
                  Johnson, Peter and
                  VanSant-Webb, Chad and
                  Margraf, Rebecca and
                  Briggs, Eric and
                  Whitehead, Kevin J. and
                  Thomson, Jennifer and
                  Lin, Angela E. and
                  Pyeritz, Reed E. and
                  Marth, Gabor and
                  Bayrak-Toydemir, Pinar},
  title        = {{Genome sequencing reveals a deep intronic splicing 
                   ACVRL1 mutation hotspot in Hereditary Haemorrhagic
                   Telangiectasia}},
  journal      = {JOURNAL OF MEDICAL GENETICS},
  year         = 2018,
  volume       = 55,
  number       = 12,
  pages        = {824-830},
  month        = jan,
}