A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.
about
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiencyGenetics and genomic medicine in Saudi ArabiaClinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia RegistryUnderstanding, treating and avoiding hematological disease: better medicine through mathematics?
P2860
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
A novel homozygous mutation in ...... eutropenia in the same family.
@ast
A novel homozygous mutation in ...... eutropenia in the same family.
@en
type
label
A novel homozygous mutation in ...... eutropenia in the same family.
@ast
A novel homozygous mutation in ...... eutropenia in the same family.
@en
prefLabel
A novel homozygous mutation in ...... eutropenia in the same family.
@ast
A novel homozygous mutation in ...... eutropenia in the same family.
@en
P2093
P2860
P1476
A novel homozygous mutation in ...... eutropenia in the same family.
@en
P2093
Abdullah A Alangari
Abdulrahman Alsultan
Mohamed Elfaki Osman
Shamsa Anazi
P2860
P2888
P304
P356
10.1007/S10875-013-9945-7
P577
2013-10-09T00:00:00Z
P6179
1010326881