(Q63315478)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

An unequal crossover event in RCCX modules of the human MHC resulting in the formation of a TNXB/TNXA hybrid and deletion of the CYP21A (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

0 references

1

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11 November 2019

author name string

Erwin K Chung

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Olli Ruuskanen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Marja Liisa Lokki

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 August 2002

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

683-689

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

Genetic, structural and functional diversities of human complement components C4A and C4B and their mouse homologues, Slp and C4

11 November 2019

cites work

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Partial gene duplication as a cause of human disease

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Partial gene duplication in Duchenne and Becker muscular dystrophies

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7 January 2021

The molecular genetics of 21-hydroxylase deficiency

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7 January 2021

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis.

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

A simple micro cytotoxicity test

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

GENOMIC ANALYSIS OF THE F SUBTYPES OF HUMAN COMPLEMENT FACTOR B

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

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https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Genomics of the major histocompatibility complex: haplotypes, duplication, retroviruses and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

The Ehlers-Danlos syndrome: on beyond collagens

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

The complexity in regulating the expression of tenascins

1 reference

https://api.crossref.org/works/10.1016%2FS0198-8859%2802%2900416-0

7 January 2021

10.1016/S0198-8859(02)00416-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121677%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference