Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

Details

Serval ID
serval:BIB_2B32349A8D48
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Journal
Journal of Medical Genetics
Author(s)
Ballhausen  D., Bonafe  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.
ISSN
1468-6244
Publication state
Published
Issued date
01/2003
Peer-reviewed
Oui
Volume
40
Number
1
Pages
65-71
Notes
Letter Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Jan
Keywords
Adolescent Adult Amino Acid Substitution/genetics Anion Transport Proteins Arginine/*genetics Biological Transport/genetics Carrier Proteins/*genetics/metabolism Child Chromosome Mapping/*methods Female Genes, Recessive/*genetics *Homozygote Humans Male Membrane Transport Proteins Middle Aged Mutation/*genetics Osteochondrodysplasias/*genetics Phenotype Sulfates/metabolism Tryptophan/*genetics
Pubmed
Web of science
Open Access
Yes
Create date
21/01/2008 12:50
Last modification date
20/08/2019 13:10
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