Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.

Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.

Item
http://www.wikidata.org/entity/Q34211184
X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndromeAlport syndrome: abnormalities of type IV collagen genes and proteins.Loss of expression of type IV collagen alpha5 and alpha6 chains in colorectal cancer associated with the hypermethylation of their promoter region.Women and Alport syndrome.Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndromeX-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsA novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalitiesAlport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.The variable course of women with X-linked Alport Syndrome.A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.Female X-linked Alport syndrome with somatic mosaicism.
P2860

Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.

Item
http://www.wikidata.org/entity/Q34211184
description
1995 nî lūn-bûn
@nan
1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Severe alport phenotype in a w ...... me carrying the normal allele.
@ast
Severe alport phenotype in a w ...... me carrying the normal allele.
@en
Severe alport phenotype in a w ...... me carrying the normal allele.
@nl
type
label
Severe alport phenotype in a w ...... me carrying the normal allele.
@ast
Severe alport phenotype in a w ...... me carrying the normal allele.
@en
Severe alport phenotype in a w ...... me carrying the normal allele.
@nl
prefLabel
Severe alport phenotype in a w ...... me carrying the normal allele.
@ast
Severe alport phenotype in a w ...... me carrying the normal allele.
@en
Severe alport phenotype in a w ...... me carrying the normal allele.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932
P356
P1433
P1476
Severe alport phenotype in a w ...... me carrying the normal allele.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932