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
Institution
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
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 17:08
Last modification date
20/08/2019 16:02
Usage data
