Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation twelve individuals homozygous for DTDST mutation R279W.

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Serval ID
serval:BIB_FE153E417420
Type
Inproceedings: an article in a conference proceedings.
Publication sub-type
Abstract (Abstract): shot summary in a article that contain essentials elements presented during a scientific conference, lecture or from a poster.
Collection
Publications
Institution
Production externe
Title
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation twelve individuals homozygous for DTDST mutation R279W.
Title of the conference
50th Annual Meeting of the American Society of Human Genetics
Author(s)
Superti-Furga A., Hecht J., Unger S., Cole W., Hamel B., Bellus G., Classen M., LeMerrer M., Zabel B., Langer L, Spranger J, Cohn D, Sobetzko D
Address
Philadelphia, Pennsylvania, October 3-7, 2000
ISBN
0002-9297
Publication state
Published
Issued date
2000
Peer-reviewed
Oui
Volume
67
Series
American Journal of Human Genetics
Pages
379
Language
english
Web of science
000089400702121
Create date
14/03/2011 16:08
Last modification date
20/08/2019 16:28
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