Literature DB >> 8012364

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.

R M Dharmavaram1, M A Elberson, M Peng, L A Kirson, T E Kelley, S A Jimenez.   

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Year:  1994        PMID： 8012364     DOI： 10.1093/hmg/3.3.507

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


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  6 in total

1.  Partial characterization of the C-terminal non-collagenous domain (NC1) of collagen type X.

Authors:  R E Barber; A P Kwan
Journal:  Biochem J       Date:  1996-12-01       Impact factor: 3.857

Review 2.  Genetic aspects of familial osteoarthritis.

Authors:  S A Jimenez; R M Dharmavaram
Journal:  Ann Rheum Dis       Date:  1994-12       Impact factor: 19.103

3.  Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Authors:  G A Wallis; B Rash; B Sykes; J Bonaventure; P Maroteaux; B Zabel; R Wynne-Davies; M E Grant; R P Boot-Handford
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

4.  Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.

Authors:  J Bonaventure; F Chaminade; P Maroteaux
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

5.  Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias.

Authors:  J Loughlin; C Irven; B Sykes
Journal:  Hum Genet       Date:  1994-12       Impact factor: 4.132

6.  Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene.

Authors:  Kosei Hasegawa; Yosuke Higuchi; Miho Yamashita; Hiroyuki Tanaka
Journal:  Clin Pediatr Endocrinol       Date:  2015-02-10
  6 in total

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