Literature DB >> 11303514

Sulphate transporter gene mutations in apparently isolated club foot.

C Huber, S Odent, S Rumeur, P Padovani, C Penet, V Cormier-Daire, A Munnich, M Le Merrer.   

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Year:  2001        PMID： 11303514      PMCID： PMC1734821          DOI： 10.1136/jmg.38.3.191

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Whole genome sequencing identifies ANXA3 and MTHFR mutations in a large family with an unknown equinus deformity associated genetic disorder.

Authors:  Zhiqun Zhang; Zhuqing Kong; Miao Zhu; Wenxiang Lu; Lei Ni; Yunfei Bai; Yue Lou
Journal:  Mol Biol Rep       Date:  2016-07-30       Impact factor: 2.316

2.  A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

Authors:  M Czarny-Ratajczak; J Lohiniva; P Rogala; K Kozlowski; M Perälä; L Carter; T D Spector; L Kolodziej; U Seppänen; R Glazar; J Królewski; A Latos-Bielenska; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  2001-09-14       Impact factor: 11.025

3.  Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Authors:  Tatiana Markova; Vladimir Kenis; Evgenii Melchenko; Aynur Alieva; Tatiana Nagornova; Anna Orlova; Natalya Ogorodova; Olga Shchagina; Alexander Polyakov; Elena Dadali; Sergey Kutsev
Journal:  Genes (Basel)       Date:  2022-08-24       Impact factor: 4.141

4.  SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.

Authors:  Helmi Härkönen; Petra Loid; Outi Mäkitie
Journal:  Genes (Basel)       Date:  2021-05-11       Impact factor: 4.096

5.  Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed.

Authors:  Mark W Neff; John S Beck; Julie M Koeman; Elissa Boguslawski; Lisa Kefene; Andrew Borgman; Alison L Ruhe
Journal:  PLoS One       Date:  2012-12-26       Impact factor: 3.240
  5 in total

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