Literature DB >> 7757086

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

C J Williams1, M Rock, E Considine, S McCarron, P Gow, R Ladda, D McLain, V M Michels, W Murphy, D J Prockop.   

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Year:  1995        PMID： 7757086     DOI： 10.1093/hmg/4.2.309

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


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  7 in total

1.  The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Authors:  A K Gedeon; G E Tiller; M Le Merrer; S Heuertz; L Tranebjaerg; D Chitayat; S Robertson; I A Glass; R Savarirayan; W G Cole; D L Rimoin; B G Kousseff; H Ohashi; B Zabel; A Munnich; J Gecz; J C Mulley
Journal:  Am J Hum Genet       Date:  2001-05-08       Impact factor: 11.025

2.  The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Authors:  K P Hoornaert; C Dewinter; I Vereecke; F A Beemer; W Courtens; A Fryer; H Fryssira; M Lees; A Müllner-Eidenböck; D L Rimoin; L Siderius; A Superti-Furga; K Temple; P J Willems; A Zankl; C Zweier; A De Paepe; P Coucke; G R Mortier
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

Review 3.  Occupational and genetic risk factors for osteoarthritis: a review.

Authors:  Berran Yucesoy; Luenda E Charles; Brent Baker; Cecil M Burchfiel
Journal:  Work       Date:  2015-01-01

4.  Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

Authors:  A J Richards; D M Baguley; J R Yates; C Lane; M Nicol; P S Harper; J D Scott; M P Snead
Journal:  Am J Hum Genet       Date:  2000-09-25       Impact factor: 11.025

5.  Genetic linkage analysis of 14 candidate gene loci in a family with autosomal dominant osteoarthritis without dysplasia.

Authors:  I Meulenbelt; C Bijkerk; F C Breedveld; P E Slagboom
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

6.  BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation.

Authors:  Kannan Vaidyanathan; Smita Lakhotia; H M Ravishankar; Umaira Tabassum; Geetashree Mukherjee; Kumaravel Somasundaram
Journal:  J Biosci       Date:  2009-09       Impact factor: 1.826

7.  Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Authors:  Gail C Jackson; Laureane Mittaz-Crettol; Jacqueline A Taylor; Geert R Mortier; Juergen Spranger; Bernhard Zabel; Martine Le Merrer; Valerie Cormier-Daire; Christine M Hall; Amaka Offiah; Michael J Wright; Ravi Savarirayan; Gen Nishimura; Simon C Ramsden; Rob Elles; Luisa Bonafe; Andrea Superti-Furga; Sheila Unger; Andreas Zankl; Michael D Briggs
Journal:  Hum Mutat       Date:  2011-10-31       Impact factor: 4.878
  7 in total

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