Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3) (Q28288703)

1

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J A McGrath

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A M Christiano

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J Uitto

Primary structure of the human laminin A chain. Limited expression in human tissues

4

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language of work or name

English

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publication date

1995

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published in

Human Mutation

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volume

6

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issue

1

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page(s)

77-84

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

A new nomenclature for the laminins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

Laminins and other strange proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

Nonsense mutations and diminished mRNA levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

1 reference

7 January 2021

The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retinoic acid

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021

Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060115

7 January 2021