(PDF) Identification of a Novel Mevalonate Kinase Gene

Identification of a Novel Mevalonate Kinase Gene Mutation in Combination With the Common MVK V377I Substitution and the Low-Penetrance TNFRSF1A R92Q Mutation

European Journal of Human Genetics - United Kingdom

doi 10.1038/sj.ejhg.5201352

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December 22, 2004

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Springer Science and Business Media LLC

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Amanote Research

Identification of a Novel Mevalonate Kinase Gene Mutation in Combination With the Common MVK V377I Substitution and the Low-Penetrance TNFRSF1A R92Q Mutation

European Journal of Human Genetics - United Kingdom

doi 10.1038/sj.ejhg.5201352

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Identification of an Active Site Alanine in Mevalonate Kinase Through Characterization of a Novel Mutation in Mevalonate Kinase Deficiency

368 Novel Mevalonate Kinase Mutation in a Patient With Porokeratosis Ptychotropica

A Novel Mutation in the Connexin 46 Gene Causes Autosomal Dominant Congenital Cataract With Incomplete Penetrance

Low-Penetrance of RB-1 Gene Mutation in Familial Retinoblastoma 135

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Identification of a Novel Mutation in the Factor VIII Gene Causing Severe Haemophilia A

Mutation Analysis of the SDHB and SDHD Genes in Pheochromocytomas and Paragangliomas: Identification of a Novel Nonsense Mutation (Q168X) in the SDHB Gene

Detection of a Novel Mutation in the CACNA1A Gene

Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report