Literature DB >> 6864723

Type III collagen deficiency with normal phenotype.

F M Pope, A H Child, A C Nicholls, P Narcisi, D E Dorrance.   

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Year:  1983        PMID： 6864723      PMCID： PMC1439220     

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   5.344


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  5 in total

1.  Inheritance of Ehlers-Danlos type IV syndrome.

Authors:  F M Pope; G R Martin; V A McKusick
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

2.  Production of procollagen by human fibroblasts in culture.

Authors:  B D Smith; P H Byers; G R Martin
Journal:  Proc Natl Acad Sci U S A       Date:  1972-11       Impact factor: 11.205

3.  The estimation of two collagens from human dermis by interrupted gel electrophoresis.

Authors:  B Sykes; B Puddle; M Francis; R Smith
Journal:  Biochem Biophys Res Commun       Date:  1976-10-18       Impact factor: 3.575

4.  EDS IV (acrogeria): new autosomal dominant and recessive types.

Authors:  F M Pope; A C Nicholls; P M Jones; R S Wells; D Lawrence
Journal:  J R Soc Med       Date:  1980-03       Impact factor: 5.344

5.  Some patients with cerebral aneurysms are deficient in type III collagen.

Authors:  F M Pope; A C Nicholls; P Narcisi; J Bartlett; G Neil-Dwyer; B Doshi
Journal:  Lancet       Date:  1981-05-02       Impact factor: 79.321
  5 in total
  2 in total

1.  Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

Authors:  S Kontusaari; G Tromp; H Kuivaniemi; C Stolle; F M Pope; D J Prockop
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

2.  Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.

Authors:  D O Sillence; A A Chiodo; P E Campbell; W G Cole
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318
  2 in total

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