Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
about
The promise of discovering population-specific disease-associated genes in South Asia.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.NMR as a Tool to Investigate the Processes of Mitochondrial and Cytosolic Iron-Sulfur Cluster Biosynthesis
P2860
Q38675865-F8B822A3-58E5-4036-9039-5A6128C61E96Q46904962-C575B0E4-DC59-41FE-BDCB-6ABFA9298D82Q47189249-990D4F7A-9802-49B4-8D28-E8E1D1B11F90Q47214684-69576FB5-8E4A-41F7-8112-A5D7617247D5Q52562787-A6F2D8EE-BAC4-485B-B0AB-FC1B0904B5E0Q52721206-8273AD47-B589-4B79-A9BE-E81A6BF206BBQ58778523-AB498A55-8591-448F-8DC8-BA49D219AD32
P2860
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Homozygous p.(Glu87Lys) varian ...... ondrial dysfunctions syndrome.
@en
type
label
Homozygous p.(Glu87Lys) varian ...... ondrial dysfunctions syndrome.
@en
prefLabel
Homozygous p.(Glu87Lys) varian ...... ondrial dysfunctions syndrome.
@en
P2093
P2860
P50
P356
P1476
Homozygous p.(Glu87Lys) varian ...... ondrial dysfunctions syndrome.
@en
P2093
Anil Kanthi
Anju Shukla
Anshika Srivastava
Malavika Hebbar
Oliver Brandau
Rajagopal Kadavigere
P2860
P2888
P304
P356
10.1038/JHG.2017.35
P577
2017-03-30T00:00:00Z
P6179
1084128239