Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia (Q34215637)

31 July 2017

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia (English)

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31 July 2017

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Christine Hofmann

1

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31 July 2017

Hermann Girschick

2

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31 July 2017

Etienne Mornet

3

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31 July 2017

Doris Schneider

4

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31 July 2017

Franz Jakob

5

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Birgit Mentrup

6

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31 July 2017

26 February 2014

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European Journal of Human Genetics

31 July 2017

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31 July 2017

22

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31 July 2017

10

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31 July 2017

1160-1164

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https://scigraph.springernature.com/pub.10.1038/ejhg.2014.10

31 July 2017

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cites work

Clinical utility gene card for: hypophosphatasia - update 2013.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169536

Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169536

Purinergic signalling: from normal behaviour to pathological brain function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169536

Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169536

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169536

Vitamin D status: measurement, interpretation, and clinical application

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169536

Correlations of genotype and phenotype in hypophosphatasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169536

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169536

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169536

Enzyme-replacement therapy in life-threatening hypophosphatasia.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.10

21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.10

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Dimensions Publication ID

31 July 2017

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31 July 2017

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