Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. - Wikidata - wikimedia - TriplyDB

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

http://www.wikidata.org/entity/Q34259605

about

Infectious diseases associated with complement deficiencies.Fortuitous detection of uniparental isodisomy of chromosome 6.Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.Transient neonatal diabetes, a disorder of imprinting.Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.Normal phenotype with paternal uniparental isodisomy for chromosome 21.Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.Bloom syndrome and maternal uniparental disomy for chromosome 15.Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation CD45-deficient severe combined immunodeficiency caused by uniparental disomy.A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.Segmental Maternal UPD6 with Prenatal Growth Restriction.Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms Genetic deficiencies of the complement system and association with disease--early components.Uniparental disomy and genome imprinting: an overview.Uniparental disomy and genomic imprinting in humans.Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

P2860

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P2860

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

http://www.wikidata.org/entity/Q34259605

description

1990 nî lūn-bûn

@nan

1990 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1990 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1990年の論文

@ja

1990年論文

@yue

1990年論文

@zh-hant

1990年論文

@zh-hk

1990年論文

@zh-mo

1990年論文

@zh-tw

1990年论文

@wuu

name

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@ast

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@en

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@nl

type

label

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@ast

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@en

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@nl

prefLabel

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@ast

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@en

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@nl

P1433

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P1476

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P2093

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P2860

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P698

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P932

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P356

P1433

Journal of Clinical Investigation

P1476

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

@en

P2093

Balakrishnan K

http://www.w3.org/2001/XMLSchema#string

Beischel LS

http://www.w3.org/2001/XMLSchema#string

Bishof NA

http://www.w3.org/2001/XMLSchema#string

Choi E

http://www.w3.org/2001/XMLSchema#string

Welch TR

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P2860

DO beta: a new beta chain gene in HLA-D with a distinct regulation of expression

Uniparental disomy as a mechanism for human genetic disease

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.

The origin of mosaic Down syndrome: four cases with chromosome markers.

Genetic polymorphism in human glycine-rich beta-glycoprotein.

Inherited structural polymorphism of the fourth component of human complement

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

Lupus diseases associated with hereditary and acquired deficiencies of complement.

Phenotyping of human complement component C4, a class-III HLA antigen.

P304

675-678

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P31

scholarly article

P356

10.1172/JCI114760

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P407

P433

2

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P478

86

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P577

1990-08-01T00:00:00Z

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P698

2384609

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P932

296776

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