Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2006 1
2007 1
2014 1
2015 1
2016 1
2024 0

Text availability

Article attribute

Article type

Publication date

PubMed (cited) for id: 612907

4 results

Results by year

Filters applied: . Clear all
Page 1
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
DeLuca AP, Whitmore SS, Barnes J, Sharma TP, Westfall TA, Scott CA, Weed MC, Wiley JS, Wiley LA, Johnston RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, Stone EM, Slusarski DC. DeLuca AP, et al. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22. Hum Mol Genet. 2016. PMID: 26494905 Free PMC article.
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD. Chakraborty PK, et al. Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5. Blood. 2014. PMID: 25193871 Free PMC article.