Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (Q39459721)

12 September 2017

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (English)

1 reference

rhizomelic chondrodysplasia punctata

12 September 2017

1 reference

Brandon Itzkovitz

1

1 reference

12 September 2017

Sarn Jiralerspong

2

1 reference

12 September 2017

Graeme Nimmo

3

1 reference

12 September 2017

Melissa Loscalzo

4

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12 September 2017

Dafne D G Horovitz

5

1 reference

12 September 2017

Ann Snowden

6

1 reference

12 September 2017

Ann Moser

7

1 reference

12 September 2017

Steve Steinberg

8

1 reference

12 September 2017

Nancy Braverman

9

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12 September 2017

31 October 2011

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12 September 2017

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12 September 2017

33

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12 September 2017

1

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12 September 2017

189-197

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A method and server for predicting damaging missense mutations

12 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Functions and biosynthesis of plasmalogens in health and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

An animal cell mutant with a deficiency in acyl/alkyl-dihydroxyacetone-phosphate reductase activity. Effects on the biosynthesis of ether-linked and diacyl glycerolipids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

A fibroblast cell line defective in alkyl-dihydroxyacetone phosphate synthase: a novel defect in plasmalogen biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

The crucial step in ether phospholipid biosynthesis: structural basis of a noncanonical reaction associated with a peroxisomal disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Ether lipid biosynthesis: isolation and molecular characterization of human dihydroxyacetonephosphate acyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Impaired membrane traffic in defective ether lipid biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Identification of PEX7 as the second gene involved in Refsum disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Natural history of rhizomelic chondrodysplasia punctata.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

Topography of ether phospholipid biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21623

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21623

1 reference

12 September 2017

1 reference