Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.

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Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

P2860

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Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.

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http://www.wikidata.org/entity/Q51663372

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2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年學術文章

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2009年學術文章

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name

Complement 4 phenotypes and ge ...... cal 21-hydroxylase deficiency.

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Complement 4 phenotypes and ge ...... cal 21-hydroxylase deficiency.

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type

Item

label

Complement 4 phenotypes and ge ...... cal 21-hydroxylase deficiency.

@en

Complement 4 phenotypes and ge ...... cal 21-hydroxylase deficiency.

@nl

prefLabel

Complement 4 phenotypes and ge ...... cal 21-hydroxylase deficiency.

@en

Complement 4 phenotypes and ge ...... cal 21-hydroxylase deficiency.

@nl

P1476

Complement 4 phenotypes and ge ...... ical 21-hydroxylase deficiency

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P2093

A Condino Neto

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M Kirschfink

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M Palandi De Mello

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M de Araujo

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S H Valente de Lemos-Marini

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P2860

Molecular genetics of the human MHC complement gene cluster

Organizations and gene duplications of the human and mouse MHC complement gene clusters

Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities, and body mass index

Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society

Complement deficiency and disease: an update

The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene

Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency

Practice parameter for the diagnosis and management of primary immunodeficiency

Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.

Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease as

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182-188

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scholarly article

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10.1111/J.1365-2249.2008.03838.X

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155

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Gil Guerra-Junior

Anete S Grumach

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2009-02-01T00:00:00Z

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23771855

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19137635

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Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.

about

P2860

P2860

Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932