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- Title
Phenotypic heterogeneity and evidence of a founder effect associated with G6 PC3 mutations in patients with severe congenital neutropenia.
- Authors
Smith, Bradley N.; Evans, Catherine; Ali, Akbar; Ancliff, Phil J.; Hayee, Bu'Hussain; Segal, Anthony W.; Hall, Georgina; Kaya, Zuhre; Shakoori, Abdul Rauf; Linch, David C.; Gale, Rosemary E.
- Abstract
The article discusses the heterozygous mutations in the glucose-6-phosphatase gene G6PC3 patients with congenital neutropenia (SCN). Such mutation may also cause abnormalities including structural heart defects, urogenital malformations, skeletal abnormalities, primary pulmonary hypertension and growth and developmental delay. It also presents information on the impact of apoptosis with mutation in neutrophils.
- Subjects
GENETIC mutation; GLUCOSE-6-phosphatase; NEUTROPENIA; HUMAN abnormalities; PULMONARY hypertension; APOPTOSIS; NEUTROPHILS; GENETICS
- Publication
British Journal of Haematology, 2012, Vol 158, Issue 1, p146
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/j.1365-2141.2012.09110.x