(Q53290346)

English

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.

scientific article published in January 2010

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063072%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063072%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

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inferred from title

Nualanong Visitsunthorn

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063072%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Orathai Jirapongsananuruk

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063072%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

N Vatanavicharn

1

1 reference

Europe PubMed Central

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16 January 2020

T Pho-iam

3

1 reference

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16 January 2020

P Pacharn

5

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16 January 2020

K Chokephaibulkit

6

1 reference

Europe PubMed Central

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16 January 2020

C Limwongse

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063072%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

P Wasant

8

1 reference

Europe PubMed Central

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16 January 2020

publication date

1 January 2010

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16 January 2020

Journal of Applied Genetics

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16 January 2020

51

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16 January 2020

4

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16 January 2020

523-528

1 reference

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16 January 2020

https://scigraph.springernature.com/pub.10.1007/bf03208884

0 references

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

RMRP mutations in cartilage-hair hypoplasia.

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

Yeast site-specific ribonucleoprotein endoribonuclease MRP contains an RNA component homologous to mammalian RNase MRP RNA and essential for cell viability

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum

1 reference

https://api.crossref.org/works/10.1007%2FBF03208884

21 January 2018

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA

1 reference

https://pubmed.ncbi.nlm.nih.gov/21063072

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Growth in cartilage-hair hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21063072

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoplasia of cartilage and hair with combined immune deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21063072

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF03208884

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063072%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21063072%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

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