Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
about
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.La Deletion from Mouse Brain Alters Pre-tRNA Metabolism and Accumulation of Pre-5.8S rRNA, with Neuron Death and Reactive Astrocytosis.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
P2860
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P2860
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Autosomal-Recessive Mutations ...... and Progressive Microcephaly.
@en
type
label
Autosomal-Recessive Mutations ...... and Progressive Microcephaly.
@en
prefLabel
Autosomal-Recessive Mutations ...... and Progressive Microcephaly.
@en
P2093
P2860
P50
P1476
Autosomal-Recessive Mutations ...... and Progressive Microcephaly.
@en
P2093
Bansri Furia
Christopher R Trotta
Damir Musaev
Eric Scott
Kiely N James
Miriam S Reuter
Mohammed Al-Owain
Rami Abou Jamra
Rasim O Rosti
Tipu Sultan
P2860
P304
P356
10.1016/J.AJHG.2016.05.023
P407
P577
2016-07-01T00:00:00Z