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Can I read Lamin B-receptor mutations in Pelger–Huët anomaly on EtoBox?
Lamin B-receptor mutations in Pelger–Huët anomaly by Steve Best; Filippo Salvati; Juraj Kallo; Chad Garner; Sue Height; Swee Lay Thein; David C Rees is a Medicine article available to read on EtoBox.
What is Lamin B-receptor mutations in Pelger–Huët anomaly about?
**Summary.** Pelger–Huët anomaly is an inherited abnormality of neutrophils, characterized by reduced nuclear segementation and an apparently looser chromatin structure. Following linkage studies in two families, the lamin B‐receptor (LBR) was sequenced and mutations found: CCG→CTG causing proline→leucine in codon 119 of exon 3, and IVS11‐9 A→G, disrupting the splice acceptor site. The LBR gene (__LBR__) was also sequenced from a single English man with Pelger–Huët anomaly and a heterozygous C→G mutation was found in codon 569 of exon 14, predicted to cause a proline→arginine. Our results confirm recently published findings that __LBR__ mutations cause Pelger–Huët.
Who reads Lamin B-receptor mutations in Pelger–Huët anomaly?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Steve Best; Filippo Salvati; Juraj Kallo; Chad Garner; Sue Height; Swee Lay Thein; David C Rees
- Publisher
- John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0007-1048)
- Published
- 2003
- Language
- EN
- Field
- Medicine (Health Sciences)