An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome

Toni Pearson, Fiona Curtis, Ayman Al-Eyadhy, Salem Al-Tamemi, Bruce Mazer, Yigal Dror, Sharon Abish, Sherri Bale, John Compton, Reena Ray, Patrick Scott, Vazken M. Der Kaloustian

Research output: Contribution to journalArticle

14 Citations (Scopus)
Original languageEnglish
Pages (from-to)2159-2161
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number16
DOIs
Publication statusPublished - Aug 15 2008

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Multiple Abnormalities
Developmental Disabilities
Cell Cycle Proteins
RNA Splice Sites
Amino Acid Substitution
Nuclear Proteins
Introns
Cerebellum
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Pearson, T., Curtis, F., Al-Eyadhy, A., Al-Tamemi, S., Mazer, B., Dror, Y., ... Der Kaloustian, V. M. (2008). An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome. American Journal of Medical Genetics, Part A, 146(16), 2159-2161. https://doi.org/10.1002/ajmg.a.32412

An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome. / Pearson, Toni; Curtis, Fiona; Al-Eyadhy, Ayman; Al-Tamemi, Salem; Mazer, Bruce; Dror, Yigal; Abish, Sharon; Bale, Sherri; Compton, John; Ray, Reena; Scott, Patrick; Der Kaloustian, Vazken M.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 16, 15.08.2008, p. 2159-2161.

Research output: Contribution to journalArticle

Pearson, T, Curtis, F, Al-Eyadhy, A, Al-Tamemi, S, Mazer, B, Dror, Y, Abish, S, Bale, S, Compton, J, Ray, R, Scott, P & Der Kaloustian, VM 2008, 'An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome', American Journal of Medical Genetics, Part A, vol. 146, no. 16, pp. 2159-2161. https://doi.org/10.1002/ajmg.a.32412
Pearson, Toni ; Curtis, Fiona ; Al-Eyadhy, Ayman ; Al-Tamemi, Salem ; Mazer, Bruce ; Dror, Yigal ; Abish, Sharon ; Bale, Sherri ; Compton, John ; Ray, Reena ; Scott, Patrick ; Der Kaloustian, Vazken M. / An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome. In: American Journal of Medical Genetics, Part A. 2008 ; Vol. 146, No. 16. pp. 2159-2161.
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