Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A. - Wikidata - awgldk - TriplyDB

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

http://www.wikidata.org/entity/Q45881648

about

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans.A skewed view of X chromosome inactivation.A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity.Human X chromosome inactivation and reactivation: implications for cell reprogramming and disease.

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P2860

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

http://www.wikidata.org/entity/Q45881648

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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2005年學術文章

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name

Familial nonrandom inactivatio ...... tes manifesting haemophilia A.

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Familial nonrandom inactivatio ...... tes manifesting haemophilia A.

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type

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Familial nonrandom inactivatio ...... tes manifesting haemophilia A.

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Familial nonrandom inactivatio ...... tes manifesting haemophilia A.

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prefLabel

Familial nonrandom inactivatio ...... tes manifesting haemophilia A.

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Familial nonrandom inactivatio ...... tes manifesting haemophilia A.

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SJ.EJHG.5201386

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European Journal of Human Genetics

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Familial nonrandom inactivatio ...... otes manifesting haemophilia A

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Barbara R Migeon

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Cristina Morerio

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Elio Boeri

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Fabio Corsolini

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Federico Bottini

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Maria Patrizia Bicocchi

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Maura Acquila

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Mirella Pasino

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Tiziana Lanza

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P2860

The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia

X-chromosome inactivation: counting, choice and initiation.

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.

Nonrandom X chromosome DNA methylation patterns in hemophiliac females.

Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.

The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4

Evolutionary conservation of possible functional domains of the human and murine XIST genes.

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.

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sj.ejhg.5201386

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635-640

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scholarly article

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10.1038/SJ.EJHG.5201386

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5

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13

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Angelo Claudio Molinari

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2005-05-01T00:00:00Z

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7991949

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