A molecular classification of congenital neutropenia syndromes.
about
A syndrome with congenital neutropenia and mutations in G6PC3Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemiaCyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.Evaluation and management of patients with isolated neutropeniaNeutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).Primary immunodeficiency diseases associated with neurologic manifestations.Skin manifestations of primary immune deficiency.Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutationRecent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes.Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history.Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
P2860
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P2860
A molecular classification of congenital neutropenia syndromes.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
A molecular classification of congenital neutropenia syndromes.
@en
type
label
A molecular classification of congenital neutropenia syndromes.
@en
prefLabel
A molecular classification of congenital neutropenia syndromes.
@en
P356
P1476
A molecular classification of congenital neutropenia syndromes.
@en
P2093
Laurence A Boxer
P304
P356
10.1002/PBC.21282
P577
2007-10-01T00:00:00Z