Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
about
Digenic mutations in severe congenital neutropeniaHAX-1 regulates cyclophilin-D levels and mitochondria permeability transition pore in the heart.Hax-1: a regulator of calcium signaling and apoptosis progression with multiple roles in human disease.Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.Endoplasmic reticulum (ER) stress triggers Hax1-dependent mitochondrial apoptotic events in cardiac cells.A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.
P2860
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
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2010 nî lūn-bûn
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name
Novel HAX1 gene mutations asso ...... severe congenital neutropenia.
@en
Novel HAX1 gene mutations asso ...... severe congenital neutropenia.
@nl
type
label
Novel HAX1 gene mutations asso ...... severe congenital neutropenia.
@en
Novel HAX1 gene mutations asso ...... severe congenital neutropenia.
@nl
prefLabel
Novel HAX1 gene mutations asso ...... severe congenital neutropenia.
@en
Novel HAX1 gene mutations asso ...... severe congenital neutropenia.
@nl
P2093
P2860
P1433
P1476
Novel HAX1 gene mutations asso ...... severe congenital neutropenia.
@en
P2093
Carlo Dufour
Elena Mastrodicasa
Michaela Calvillo
Sonia Bonanomi
Stefania Indaco
Tiziana Coliva
P2860
P304
P356
10.3324/HAEMATOL.2009.015370
P577
2010-01-01T00:00:00Z