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SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases. [JOURNAL ARTICLE]
Hum Mutat 2009 Nov 17.
Abstract | Full Citation | Find Related Articles |
| Laugel V, Dalloz C, Durand M, et al.
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. [JOURNAL ARTICLE]
Hum Mutat 2009 Nov 5.
Abstract | Full Citation | Publisher Full Text | Find Related Articles |
| Ebberink MS, Kofster J, Wanders RJ, et al.
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. [JOURNAL ARTICLE]
Hum Mutat 2009 Oct 29.
Abstract | Full Citation | Find Related Articles |
| Huber C, Fradin M, Edouard T, et al.
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. [JOURNAL ARTICLE]
Hum Mutat 2009 Oct 29.
Abstract | Full Citation | Find Related Articles |
| Garritano S, Gemignani F, Palmero EI, et al.
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. [JOURNAL ARTICLE]
Hum Mutat 2009 Oct 29.
Abstract | Full Citation | Find Related Articles |
| Musumeci L, Arthur JW, Cheung FS, et al.
Single Nucleotide Differences (SNDs) in the dbSNP Database May Lead to Errors in Genotyping and Haplotyping Studies. [JOURNAL ARTICLE]
Hum Mutat 2009 Oct 29.
Abstract | Full Citation | Find Related Articles |
| Haeuptle MA, Hennet T
Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. [JOURNAL ARTICLE]
Hum Mutat 2009 Oct 27.
Abstract | Full Citation |
| Flanagan JJ, Rossi B, Tang K, et al.
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. [JOURNAL ARTICLE]
Hum Mutat 2009 Sep 4.
Abstract | Full Citation |
| Vilboux T, Kayser M, Introne W, et al.
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. [JOURNAL ARTICLE]
Hum Mutat 2009 Sep 4.
Abstract | Full Citation |
| Pérez B, Rincón A, Jorge-Finnigan A, et al.
Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria). [JOURNAL ARTICLE]
Hum Mutat 2009 Sep 2.
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