(PDF) A Novel Nonsense Mutation of the PEPD Gene in a

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

Journal of Human Genetics - United Kingdom

doi 10.1007/s100380050023

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March 1, 2000

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Springer Science and Business Media LLC

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A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

Journal of Human Genetics - United Kingdom

doi 10.1007/s100380050023

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

A Novel E250X Mutation of the PIT1 Gene in a Patient With Combined Pituitary Hormone Deficiency.

Two Novel Mutations of the CYP11B2 Gene in a Japanese Patient With Aldosterone Deficiency Type 1

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

A Novel POLG Gene Mutation in a Patient With SANDO

A Novel PAX4 Mutation in a Japanese Patient With Maturity-Onset Diabetes of the Young

A Novel Homozygous Nonsense Mutation (p.y78*) in Tmprss6 Gene Causing Iron-Refractory Iron Deficiency Anemia (Irida) in Two Siblings

A Novel Initial Codon Mutation of the Thiazide-Sensitive Na-Cl Cotransporter Gene in a Japanese Patient With Gitelman's Syndrome

Neurofilament Deficiency in Quail Caused by Nonsense Mutation in Neurofilament-L Gene

Molecular Characterisation of Six Patients With Prolidase Deficiency: Identification of the First Small Duplication in the Prolidase Gene and of a Mutation Generating Symptomatic and Asymptomatic Outcomes Within the Same Family