TCIRG1‐Associated Congenital Neutropenia. Issue 7 (21st May 2014)

• Record Type: Journal Article
• Authors: Makaryan, Vahagn; Rosenthal, Elisabeth A.; Bolyard, Audrey Anna; Kelley, Merideth L.; Below, Jennifer E.; Bamshad, Michael J.; Bofferding, Kathryn M.; Smith, Joshua D.; Buckingham, Kati; Boxer, Laurence A.; Skokowa, Julia; Welte, Karl; Nickerson, Deborah A.; Jarvik, Gail P.; Dale, David C.; for the UW Center for Mendelian Genomics
• Is Part Of: Human mutation. Volume 35:Issue 7(2014:Jul.)
• Page Start: 824
• Page End: 827
• Publication Date: 2014-05-21
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22563
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22563-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Model of VATPase showing that TClRGl protein is it's largest component. Homozygous mutations of TClRGl are a known cause of osteopetrosis. Heterozygous mutation of p.Arg736Ser in TClRGl is now associated with congenital neutropenia, presumable by impairing the differentiation or maturation or myeloid cells in the bone marrow. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pghmgm4vpg" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>