Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
about
Genomics advances the study of inbreeding depression in the wildMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsZebrafish as a Model for the Study of Chaperonopathies.Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.The TIM23 mitochondrial protein import complex: function and dysfunction.Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.Mitochondrial Hsp70 and the troubles of nomenclature: leaving behind tradition to gain intuitiveness and clarity.Iron-Sulfur Protein Assembly in Human Cells.Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
P2860
Q28079279-51BD5B2F-82D7-4FC6-9604-62D2AE186E68Q28975783-917C00BE-4211-45D6-AFFC-52EA235E92D2Q38712393-29BA3DFB-14CC-4772-82A2-C95C4C43EE29Q38773448-2D0AA94B-3BAF-48DB-8142-23239E2992F8Q38945349-9E024D7F-FCF0-4BB1-B4F3-49C3D7E9D77CQ40115169-F93F820B-ED8A-449B-AA3C-8B8A5D49E893Q42577013-79B07D1D-2E4C-4811-B7C5-22172BBA6375Q47923323-B8E68F47-AF2B-468B-A82F-E14DE18C4C47Q50316569-E8F7993C-5631-4A79-BD6A-0A749CEAFA2CQ52721206-AEE55789-E5E6-43AE-B0F4-BEFA7079C846Q52888004-1CCC3AC3-096C-4F6E-87D9-B8E6B5A4E973
P2860
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Mutations in the heat-shock pr ...... ations and skeletal dysplasia.
@ast
Mutations in the heat-shock pr ...... ations and skeletal dysplasia.
@en
type
label
Mutations in the heat-shock pr ...... ations and skeletal dysplasia.
@ast
Mutations in the heat-shock pr ...... ations and skeletal dysplasia.
@en
prefLabel
Mutations in the heat-shock pr ...... ations and skeletal dysplasia.
@ast
Mutations in the heat-shock pr ...... ations and skeletal dysplasia.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutations in the heat-shock pr ...... ations and skeletal dysplasia.
@en
P2093
Belinda Campos-Xavier
Beryl Royer-Bertrand
Esra Dikoglu
Jong-Hee Chae
Luisa Bonafé
Murim Choi
Ok-Hwa Kim
Rodrigo Moreno-Salinas
Sheila Unger
Silvia Castillo-Taucher
P2860
P2888
P356
10.1038/SREP17154
P407
P577
2015-11-24T00:00:00Z