Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
about
Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasiaDNA copy number variants of known glaucoma genes in relation to primary open-angle glaucomaRNA-Seq: Improving Our Understanding of Retinal Biology and Disease.Pushing the envelope of retinal ganglion cell genesis: context dependent function of Math5 (Atoh7).ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreousMath5 (Atoh7) gene dosage limits retinal ganglion cell genesis.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Genetic Advances in Microphthalmia.KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments.Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
P2860
Q30611996-76012EC8-E401-4A6D-8862-0A5061B36BC2Q34155044-34C289C3-EF26-483B-B5B0-8840CB0E1542Q34741765-776E9A78-5223-42E2-BCE0-587E0B3E1C52Q35568660-816709F0-9EA4-466F-9D59-721B3FEFFA34Q36110127-F4636917-6FC6-4ED1-8D0E-19F6B506A40AQ36122441-B18730FB-C1B0-4F7B-B165-EC2718EF792BQ37071080-8711F93B-2F55-4884-A766-2B1449704D12Q38175288-91F3F077-6F11-4CA2-AE66-2110FA6714A2Q38517281-19C57A7B-36ED-410D-ACF2-0BF27B06B274Q39023010-BED0581F-9E1E-4D84-B18B-C44B407E6073Q40425956-3805375A-03C0-485B-9F90-0B0EC253A0DDQ42360122-DC18EB0E-FB55-4F10-A0B0-E83F78F84DEAQ44763362-F3356B11-228E-43E4-AE97-428B78F3C9FF
P2860
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Next generation sequencing ide ...... bal eye developmental defects.
@ast
Next generation sequencing ide ...... bal eye developmental defects.
@en
Next generation sequencing ide ...... bal eye developmental defects.
@en-gb
type
label
Next generation sequencing ide ...... bal eye developmental defects.
@ast
Next generation sequencing ide ...... bal eye developmental defects.
@en
Next generation sequencing ide ...... bal eye developmental defects.
@en-gb
prefLabel
Next generation sequencing ide ...... bal eye developmental defects.
@ast
Next generation sequencing ide ...... bal eye developmental defects.
@en
Next generation sequencing ide ...... bal eye developmental defects.
@en-gb
P2093
P2860
P50
P356
P1154
2-s2.0-84863393327
P1476
Next generation sequencing ide ...... bal eye developmental defects.
@en
P2093
Ahmed Al-Maskari
Colin A Johnson
Eamonn Sheridan
Graham R Taylor
Hussain Jafri
Joanne E Morgan
Kamron Khan
Martin McKibbin
Moin D Mohamed
P2860
P304
P356
10.1093/HMG/DDR509
P50
P5530
P577
2011-11-07T00:00:00Z
P5875
P6179
1025302356