Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
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| Veröffentlicht in: | Journal of medical genetics 2003-01, Vol.40 (1), p.65-71 |
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| container_title | Journal of medical genetics |
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| creator | Ballhausen, D Bonafé, L Terhal, P Unger, S L Bellus, G Classen, M Hamel, B C Spranger, J Zabel, B Cohn, D H Cole, W G Hecht, J T Superti-Furga, A |
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| doi_str_mv | 10.1136/jmg.40.1.65 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Adolescent Adult Age Amino Acid Substitution - genetics Anion Transport Proteins Arginine - genetics Biological Transport - genetics Carrier Proteins - genetics Carrier Proteins - metabolism Child Chromosome Mapping - methods club foot DTDST Female Genes, Recessive - genetics Genotype & phenotype Homozygote Humans Letter to JMG Male Membrane Transport Proteins Middle Aged multiple epiphyseal dysplasia Mutation Mutation - genetics Osteochondrodysplasias - genetics Phenotype Questionnaires Sulfate Transporters Sulfates - metabolism sulphate transporter Tryptophan - genetics |
| title | Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W |
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