Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Item
http://www.wikidata.org/entity/Q24517953
KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current.A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patientsAMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosisPrediction of human disease genes by human-mouse conserved coexpression analysis.Characterisation and genetic mapping of a new X linked deafness syndrome.X linked mental retardation: a clinical guide.Identification of disease genes by whole genome CGH arrays.Computational approaches to disease-gene prediction: rationale, classification and successes.Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.Recent natural selection causes adaptive evolution of an avian polygenic trait.X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.
P2860

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Item
http://www.wikidata.org/entity/Q24517953
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
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
name
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@ast
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@en
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@en-gb
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@nl
type
label
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@ast
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@en
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@en-gb
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@nl
prefLabel
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@ast
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@en
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@en-gb
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Alport syndrome, mental retard ...... iguous gene deletion syndrome?
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932