(PDF) Compound Heterozygosity of a Novel Exon 3 Frameshift

Compound Heterozygosity of a Novel Exon 3 Frameshift (p.R357P Fs*24) Mutation and Y486D Mutation in Exon 5 of the UGT1A1 Gene in a Thai Infant With Crigler-Najjar Syndrome Type 2

Genetics and Molecular Research - Brazil

doi 10.4238/2015.april.13.8

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January 1, 2015

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Genetics and Molecular Research

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Compound Heterozygosity of a Novel Exon 3 Frameshift (p.R357P Fs*24) Mutation and Y486D Mutation in Exon 5 of the UGT1A1 Gene in a Thai Infant With Crigler-Najjar Syndrome Type 2

Genetics and Molecular Research - Brazil

doi 10.4238/2015.april.13.8

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Two Unrelated Patients With Rare Crigler-Najjar Syndrome Type I: Two Novel Mutations and a Patient With Loss of Heterozygosity of UGT1A1 Gene

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child With Type I Crigler-Najjar Syndrome

Identification of a Novel Deletion in UDP-glucuronosyltransferase Gene in a Patient With Crigler–Najjar Syndrome Type I

A 2-Base Insertion in Exon 5 Is a Common Mutation of the TP53 Gene in Dogs With Histiocytic Sarcoma

Mutation in Exon 13 of the TCOF1 Gene in Patient With Treacher Collins Syndrome

A Novel Mutation (A886g) in Exon 5 of FGFR2 in Members of a Family With Crouzon Phenotype and Plagiocephaly.

IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

An Exon 53 Frameshift Mutation in CUBN Abrogates Cubam Function and Causes Imerslund-Gräsbeck Syndrome in Dogs

A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1