First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
about
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Unresolved questions regarding human hereditary deafness.An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.Expanding the genotypic spectrum of Perrault syndrome.
P2860
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
First independent replication ...... quencing of an Italian family.
@ast
First independent replication ...... quencing of an Italian family.
@en
type
label
First independent replication ...... quencing of an Italian family.
@ast
First independent replication ...... quencing of an Italian family.
@en
prefLabel
First independent replication ...... quencing of an Italian family.
@ast
First independent replication ...... quencing of an Italian family.
@en
P2093
P2860
P50
P356
P1476
First independent replication ...... equencing of an Italian family
@en
P2093
Michela Robusto
Pierangela Castorina
Umberto Ambrosetti
P2860
P2888
P304
P356
10.1038/JHG.2015.149
P577
2015-12-10T00:00:00Z