A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.

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A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.

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http://www.wikidata.org/entity/Q40233943

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

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2017年论文

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2017年论文

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name

A novel homozygous VPS45 p.P46 ...... eutropenia with myelofibrosis.

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type

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label

A novel homozygous VPS45 p.P46 ...... eutropenia with myelofibrosis.

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prefLabel

A novel homozygous VPS45 p.P46 ...... eutropenia with myelofibrosis.

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P1476

A novel homozygous VPS45 p.P46 ...... eutropenia with myelofibrosis.

@en

P2093

David Crawford

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Hanumantha R Pokala

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Klaas J Wierenga

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Peter E Newburger

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Rikin K Shah

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P2860

A method and server for predicting damaging missense mutations

The Sec1p/Munc18 protein Vps45p binds its cognate SNARE proteins via two distinct modes.

The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy

Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking

Predicting the functional effect of amino acid substitutions and indels

Molecular cloning of a mammalian homologue of the yeast vesicular transport protein vps45.

A congenital neutrophil defect syndrome associated with mutations in VPS45.

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

A randomized phase II trial comparing tacrolimus and mycophenolate mofetil to tacrolimus and methotrexate for acute graft-versus-host disease prophylaxis.

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.

P31

scholarly article

P356

10.1002/PBC.26571

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P433

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

P478

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P50

Mary Munson

P577

2017-04-28T00:00:00Z

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P698

28453180

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P921

birth defect