Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
about
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.Ring sideroblasts and sideroblastic anemiasArg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing.
P2860
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@ast
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@en
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@nl
type
label
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@ast
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@en
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@nl
prefLabel
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@ast
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@en
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@nl
P2093
P1433
P1476
Absent phenotypic expression o ...... s with a novel ALAS2 mutation.
@en
P2093
Alison May
David F Bishop
Gaetano Bergamaschi
Mario Cazzola
Paola Cerani
Sara Ferrillo
P304
P356
10.1182/BLOOD-2002-03-0685
P407
P577
2002-08-08T00:00:00Z