These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
11. A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. Rose NJ; Mackay K; Byers PH; Dalgleish R Hum Mutat; 1994; 3(4):391-4. PubMed ID: 8081394 [No Abstract] [Full Text] [Related]
13. [Mutations of genes coding collagen type I--biochemical and clinical effects]. Wieczorek P; Zawierta J; Rzeuski R Postepy Hig Med Dosw; 2000; 54(1):99-114. PubMed ID: 10803027 [TBL] [Abstract][Full Text] [Related]
14. Favourable outcome in a pregnancy with concomitant maternal and fetal osteogenesis imperfecta associated with a novel COL1A2 mutation. Chen CP; Su YN; Lin SP; Lin ML; Wang W Prenat Diagn; 2006 Feb; 26(2):188-90. PubMed ID: 16470573 [No Abstract] [Full Text] [Related]
15. Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II. Tinkle BT; Miller E; Schorry EK Hum Genet; 2006 Jul; 119(6):677. PubMed ID: 17128474 [No Abstract] [Full Text] [Related]
16. Osteogenesis imperfecta: clinical, biochemical and molecular findings. Venturi G; Tedeschi E; Mottes M; Valli M; Camilot M; Viglio S; Antoniazzi F; Tatò L Clin Genet; 2006 Aug; 70(2):131-9. PubMed ID: 16879195 [TBL] [Abstract][Full Text] [Related]
17. Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. Zhuang J; Tromp G; Kuivaniemi H; Castells S; Prockop DJ Am J Med Genet; 1996 Jan; 61(2):111-16. PubMed ID: 8669434 [TBL] [Abstract][Full Text] [Related]
18. Severity of osteogenesis imperfecta and structure of a collagen-like peptide modeling a lethal mutation site. Radmer RJ; Klein TE Biochemistry; 2004 May; 43(18):5314-23. PubMed ID: 15122897 [TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. Pollitt R; McMahon R; Nunn J; Bamford R; Afifi A; Bishop N; Dalton A Hum Mutat; 2006 Jul; 27(7):716. PubMed ID: 16786509 [TBL] [Abstract][Full Text] [Related]
20. Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta. Cohn DH; Zhang X; Byers PH Hum Mutat; 1993; 2(1):21-7. PubMed ID: 8097422 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]