Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

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DNA replication timing alterations identify common markers between distinct progeroid diseases.Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

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Q47340315-05F145ED-ADBB-4CF1-AFA1-9EE1F5081A04 Q52593715-4E1D16FB-A863-4B55-BCC0-904037E1BAFE

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

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http://www.wikidata.org/entity/Q36903005

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Rothmund-Thomson Syndrome: nov ...... CQL4 and USB1 (C16orf57) gene.

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type

Item

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Rothmund-Thomson Syndrome: nov ...... CQL4 and USB1 (C16orf57) gene.

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Rothmund-Thomson Syndrome: nov ...... CQL4 and USB1 (C16orf57) gene.

@en

P1476

Rothmund-Thomson Syndrome: nov ...... ECQL4 and USB1 (C16orf57) gene

@en

P2093

Aude-Annick Suter

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

Helen Fryssira

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

Karl Heinimann

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

Mette Sommerlund

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

Mohnish Suri

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

Munaza Ahmed

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

Peter Itin

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

Peter Miny

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

Pradeep Vasudevan

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

Sabina Gallati

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P2860

Rothmund-Thomson syndrome

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification

RECQL4 in genomic instability and aging

Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA.

RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

The mutation spectrum in RECQL4 diseases.

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

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359-366

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scholarly article

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10.1002/MGG3.209

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

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Pablo Lapunzina

Signe Vaeth

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2016-02-24T00:00:00Z

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27247962

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P932

4867568

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

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P2860

P2860

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

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P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932