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Article

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome

7 Dec 2005

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16385448
DOI: 10.1086/498852

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Related research

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Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria SyndromePMID 16385448Read ↗

PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.Semantic proximity Read ↗

The second point mutation in PREPL: a case report and literature review.Semantic proximity Read ↗

Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functionsSemantic proximity Read ↗

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndromeSemantic proximity Read ↗

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.Semantic proximity Read ↗

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.Semantic proximity Read ↗

PREPL deficiency: delineation of the phenotype and development of a functional blood assay.Semantic proximity Read ↗

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.Semantic proximity Read ↗

A Novel Single Nucleotide T980C Polymorphism in the Human Carboxypeptidase E Gene Results in Loss of Neuroprotective Function.Semantic proximity Read ↗

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.Semantic proximity Read ↗

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