Molecular Basis of Rhizomelic Chondrodysplasia Punctata Type I: High Frequency of the Leu-292 Stop Mutation in 38 Patients

AuthID
 P-015-BB7
9
Author(s)
Motley A.
·
Hogenhout E.
·
Hettema E.
·
Wijburg F.
·
Heijmans H.
·
Tabak H.
·
Distel B.
·
Wanders R.
Document Type
Proceedings Paper
Year published
1998
Published
in Journal of Inherited Metabolic Disease, ISSN: 01418955
Volume: 21, Issue: 3, Pages: 306-308 (2)
Indexing
Scopus®
Crossref®8
Pubmed®
Google Scholar®
Publication Identifiers
Pubmed: 9686382
SCOPUS: 2-s2.0-0031902698
Source Identifiers
ISSN: 01418955
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