Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.

Item
http://www.wikidata.org/entity/Q39474404
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axisIdentification of the gene for oral-facial-digital type I syndromeClinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyMouse models of ciliopathies: the state of the art.Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complexRegional selection acting on the OFD1 gene familyNovel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.A first-generation X-inactivation profile of the human X chromosome.CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyCentriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.DNA methylation profiles of human active and inactive X chromosomes.Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
P2860

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.

Item
http://www.wikidata.org/entity/Q39474404
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Characterization of Cxorf5 (71 ...... ed-coil alpha-helical domains.
@en
Characterization of Cxorf5 (71 ...... ed-coil alpha-helical domains.
@nl
type
label
Characterization of Cxorf5 (71 ...... ed-coil alpha-helical domains.
@en
Characterization of Cxorf5 (71 ...... ed-coil alpha-helical domains.
@nl
prefLabel
Characterization of Cxorf5 (71 ...... ed-coil alpha-helical domains.
@en
Characterization of Cxorf5 (71 ...... ed-coil alpha-helical domains.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Characterization of Cxorf5 (71 ...... ed-coil alpha-helical domains.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698