(Q35198283)

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Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2220807%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1) (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2220807%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

osteogenesis imperfecta

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1 reference

based on heuristic

inferred from title

phenotypic heterogeneity

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Constantinou CD

1

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25 September 2019

Pack M

2

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25 September 2019

Young SB

3

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25 September 2019

Prockop DJ

4

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Europe PubMed Central

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25 September 2019

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1 October 1990

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25 September 2019

American Journal of Human Genetics

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25 September 2019

47

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25 September 2019

4

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25 September 2019

670-679

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25 September 2019

Heritable diseases of collagen

1 reference

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13 July 2018

Phytohemagglutinin-mediated blastomere aggregation and development of allophenic mice

1 reference

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13 July 2018

Collagen genes and inherited connective tissue disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

DNA typing from single hairs

1 reference

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13 July 2018

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

Osteogenesis imperfecta: the molecular basis of clinical heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

Heterogeneity in hormone responses and patterns of collagen synthesis in cloned dermal fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

13 July 2018

Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683788

26 September 2018

Congenital web formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2220807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germline and somatic mosaicism in transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/2220807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2220807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in human procollagen genes. Consequences of the mutations in man and in transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/2220807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2220807%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2220807%20AND%20SRC:MED&resulttype=core&format=json

25 September 2019

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