(Q36437677)

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Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900535%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1) (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900535%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

recessive dystrophic epidermolysis bullosa

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author name string

A M Christiano

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900535%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

S LaForgia

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900535%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

A S Paller

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900535%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

J McGuire

4

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Europe PubMed Central

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20 October 2019

H Shimizu

5

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20 October 2019

J Uitto

6

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20 October 2019

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1 January 1996

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20 October 2019

Molecular Medicine

1 reference

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20 October 2019

2

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20 October 2019

1

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20 October 2019

59-76

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20 October 2019

https://scigraph.springernature.com/pub.10.1007/bf03402203

0 references

Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

A new nomenclature for the laminins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

DNA-based prenatal diagnosis of heritable skin diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Rapid processing of fetal skin for prenatal diagnosis by light and electron microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Human type VII collagen: cDNA cloning and chromosomal mapping of the gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

Genetic Skin Disorders of Keratin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230038

30 September 2017

PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1

1 reference

https://pubmed.ncbi.nlm.nih.gov/8900535

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8900535

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8900535

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for Recurrence

1 reference

https://pubmed.ncbi.nlm.nih.gov/8900535

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF03402203

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900535%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900535%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8900535%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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