A nomenclature for X-linked amelogenesis imperfecta (Q28211356)

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1)

Europe PubMed Central

title

A nomenclature for X-linked amelogenesis imperfecta (English)

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main subject

amelogenesis imperfecta

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P S Hart

1

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T C Hart

series ordinal

2

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J P Simmer

series ordinal

3

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J T Wright

series ordinal

4

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language of work or name

English

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publication date

April 2002

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published in

Archives of Oral Biology

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volume

47

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issue

4

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page(s)

255-60

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

An amelogenin gene defect associated with human X-linked amelogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Mutational analysis of X-linked amelogenesis imperfecta in multiple families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Detection of a novel mutation in X-linked amelogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Specific amelogenin gene splice products have signaling effects on cells in culture and in implants in vivo

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2802%2900005-5