Literature DB >> 2011540

C to T polymorphism in exon 33 of the COL3A1 gene.

G Tromp1, C Kleinert, H Kuivaniemi, D J Prockop.   

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Year:  1991        PMID： 2011540      PMCID： PMC333671          DOI： 10.1093/nar/19.3.681

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  5 in total

1.  Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.

Authors:  B P Sokolov; A N Prytkov; G Tromp; R G Knowlton; D J Prockop
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

2.  Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

Authors:  G Tromp; Y Wu; D J Prockop; S L Madhatheri; C Kleinert; J J Earley; J Zhuang; O Norrgård; R C Darling; W M Abbott
Journal:  J Clin Invest       Date:  1993-06       Impact factor: 14.808

3.  Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Authors:  U Schwarze; W I Schievink; E Petty; M R Jaff; D Babovic-Vuksanovic; K J Cherry; M Pepin; P H Byers
Journal:  Am J Hum Genet       Date:  2001-09-27       Impact factor: 11.025

4.  Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.

Authors:  Toru Ogata; Hidenori Shibamura; Gerard Tromp; Moumita Sinha; Katrina A B Goddard; Natzi Sakalihasan; Raymond Limet; Gerald L MacKean; Claudette Arthur; Taijiro Sueda; Susan Land; Helena Kuivaniemi
Journal:  J Vasc Surg       Date:  2005-06       Impact factor: 4.268

5.  COL3A1 2209G>A is a predictor of pelvic organ prolapse.

Authors:  Kirsten B Kluivers; Jeroen R Dijkstra; Jan C M Hendriks; Sabrina L Lince; Mark E Vierhout; Léon C L van Kempen
Journal:  Int Urogynecol J Pelvic Floor Dysfunct       Date:  2009-05-15
  5 in total

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