Literature DB >> 7849719

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.

A Winterpacht1, U Schwarze, S Mundlos, H Menger, J Spranger, B Zabel.   

Abstract

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Year:  1994        PMID： 7849719     DOI： 10.1093/hmg/3.10.1891

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  6 in total

1.  The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

Authors:  A Winterpacht; A Superti-Furga; U Schwarze; H Stöss; B Steinmann; J Spranger; B Zabel
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

2.  Ophthalmic and molecular genetic findings in Kniest dysplasia.

Authors:  P I Sergouniotis; G S Fincham; A M McNinch; C Spickett; A V Poulson; A J Richards; M P Snead
Journal:  Eye (Lond)       Date:  2015-01-16       Impact factor: 3.775

3.  Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Authors:  J Spranger; H Menger; S Mundlos; A Winterpacht; B Zabel
Journal:  Pediatr Radiol       Date:  1994

4.  Evaluation and management of pediatric rhegmatogenous retinal detachment.

Authors:  Adam S Wenick; David E Barañano
Journal:  Saudi J Ophthalmol       Date:  2012-05-24

5.  An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

Authors:  G E Tiller; M A Weis; P A Polumbo; H E Gruber; D L Rimoin; D H Cohn; D R Eyre
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

6.  A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

Authors:  Valentina Bruni; Cristina Barbara Spoleti; Andrea La Barbera; Vincenzo Dattilo; Emma Colao; Carmela Votino; Emanuele Bellacchio; Nicola Perrotti; Sabrina Giglio; Rodolfo Iuliano
Journal:  Genes (Basel)       Date:  2021-09-10       Impact factor: 4.096
  6 in total

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