Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta. (Q34687343)

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21 January 2020

title

Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta (English)

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21 January 2020

5

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Sangwoo T Han

6

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Erhan Firatli

8

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author name string

P S Hart

1

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S Becerik

2

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D Cogulu

3

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G Emingil

4

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P P Sulima

7

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T C Hart

9

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publication date

11 February 2009

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21 January 2020

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volume

75

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issue

4

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page(s)

401-404

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Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification

21 January 2020

cites work

1 reference

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Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264522

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264522

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264522

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264522

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264522

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264522

Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264522

The enamel proteins in human amelogenesis imperfecta.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264522

Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4264522

Changes in the protein components of rat incisor enamel during tooth development

7 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19220331

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1399-0004.2008.01112.X

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21 January 2020

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21 January 2020

PubMed publication ID

19220331

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