Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia (Q34215637)

31 July 2017

title

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia (English)

1 reference

31 July 2017

0 references

Christine Hofmann

1

1 reference

31 July 2017

Hermann Girschick

2

1 reference

31 July 2017

Etienne Mornet

3

1 reference

31 July 2017

Doris Schneider

4

1 reference

31 July 2017

Franz Jakob

5

1 reference

31 July 2017

Birgit Mentrup

6

1 reference

31 July 2017

publication date

26 February 2014

1 reference

European Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

22

1 reference

31 July 2017

issue

10

1 reference

31 July 2017

page(s)

1160-1164

1 reference

Clinical utility gene card for: hypophosphatasia - update 2013.

31 July 2017

cites work

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/EJHG.2014.10

21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.10

1 reference

Dimensions Publication ID

31 July 2017

0 references

1 reference

31 July 2017

1 reference