RMRP gene mutations and clinical presentation of cartilage-hair hypoplasia: Extensive allelic heterogeneity and lack of genotype-phenotype correlations indicate modifier genes.

Details

Serval ID
serval:BIB_9C2A75634319
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
Title
RMRP gene mutations and clinical presentation of cartilage-hair hypoplasia: Extensive allelic heterogeneity and lack of genotype-phenotype correlations indicate modifier genes.
Title of the conference
52nd Annual Meeting of the American Society of Human Genetics
Author(s)
Superti-Furga A., Atkinson A., Kirk E., Unger S., DiRocco M., Savarirayan R., Mortier G., Zabel B., Ziegler J., Roifman C., Bonafe L.
Address
Baltimore, Maryland, October 15-19, 2002
ISBN
0002-9297
Publication state
Published
Issued date
2002
Peer-reviewed
Oui
Volume
71
Series
American Journal of Human Genetics
Pages
526
Language
english
Web of science
Create date
14/03/2011 16:08
Last modification date
20/08/2019 15:02
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