Literature DB >> 1357232

A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.

P H Johnson1, A J Richards, F M Pope, D A Hopkinson.   

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Year:  1992        PMID： 1357232     DOI： 10.1007/bf02435995

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 in total

1.  Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis.

Authors:  L S Lerman; K Silverstein
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

2.  Detection and localization of single base changes by denaturing gradient gel electrophoresis.

Authors:  R M Myers; T Maniatis; L S Lerman
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

3.  Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

Authors:  G Tromp; H Kuivaniemi; C Stolle; F M Pope; D J Prockop
Journal:  J Biol Chem       Date:  1989-11-15       Impact factor: 5.157

4.  A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

Authors:  A J Richards; P N Ward; P Narcisi; A C Nicholls; J C Lloyd; F M Pope
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

5.  Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

Authors:  A J Richards; J C Lloyd; P N Ward; A De Paepe; P Narcisi; F M Pope
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

6.  A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.

Authors:  G Tromp; H Kuivaniemi; H Shikata; D J Prockop
Journal:  J Biol Chem       Date:  1989-01-25       Impact factor: 5.157

7.  Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child.

Authors:  D L Roberts; F M Pope; A C Nicholls; P Narcisi
Journal:  Br J Dermatol       Date:  1984-09       Impact factor: 9.302

8.  Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.

Authors:  P Tsipouras; P H Byers; R C Schwartz; M L Chu; D Weil; G Pepe; S B Cassidy; F Ramirez
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132
  8 in total
  1 in total

1.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025
  1 in total

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