(Q41436203)

30 September 2017

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis (English)

1 reference

30 September 2017

1 reference

Nana Okamoto

1

1 reference

30 September 2017

Tomohiro Kohmoto

2

1 reference

30 September 2017

Takuya Naruto

3

1 reference

30 September 2017

Kiyoshi Masuda

4

1 reference

30 September 2017

Takahide Komori

5

1 reference

30 September 2017

Issei Imoto

6

1 reference

30 September 2017

17 August 2017

1 reference

30 September 2017

Human Genome Variation

1 reference

30 September 2017

4

1 reference

30 September 2017

17036

1 reference

Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International

30 September 2017

start time

17 August 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/hgv.2017.36

0 references

cites work

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5559424

A novel PTCH1 mutation in a patient with Gorlin syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5559424

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5559424

A clinical and molecular overview of the human osteopetroses

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5559424

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5559424

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5559424

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5559424

Detection of 1p36 deletion by clinical exome-first diagnostic approach

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5559424

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5559424

Nosology and classification of genetic skeletal disorders: 2006 revision

19 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FHGV.2017.36

inferred from DOI database lookup

7 January 2021

based on heuristic

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FHGV.2017.36

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/HGV.2017.36

1 reference

30 September 2017

1 reference

30 September 2017

1 reference