(PDF) Case Report Identification of a Novel SLC45A2

Case Report Identification of a Novel SLC45A2 Mutation in Albinism by Targeted Next-Generation Sequencing

Genetics and Molecular Research - Brazil

doi 10.4238/gmr.15038743

Full Text

Abstract

Available in full text

Categories

Molecular Biology

Date

January 1, 2016

Authors

Publisher

Genetics and Molecular Research

Related search

A Novel Stopgain Mutation c.G992A (p.W331X) in TACR3 Gene Was Identified in Nonobstructive Azoospermia by Targeted Next-Generation Sequencing

Journal of Clinical Laboratory Analysis

Medical Laboratory Technology

Clinical Biochemistry

Occupational Health

English

Mutation Analysis of Nine Chordoma Specimens by Targeted Next-Generation Cancer Panel Sequencing

Journal of Cancer

English

Targeted Next-Generation Sequencing Identified a Novel ANK1 Mutation Associated With Hereditary Spherocytosis in a Chinese Family

English

Somatic Mutation Profiling of Liver and Biliary Cancer by Targeted Next Generation Sequencing

Oncology Letters

Cancer Research

English

Combined Mutation and Copy-Number Variation Detection by Targeted Next-Generation Sequencing in Uveal Melanoma

Modern Pathology

Forensic Medicine

English

Targeted Next Generation Sequencing Identifies a Novel Β-Spectrin Gene Mutation A2059P in Two Omani Children With Hereditary Pyropoikilocytosis

American Journal of Hematology

English

Identification of Novel USH2A Mutations in Patients With Autosomal Recessive Retinitis Pigmentosa via Targeted Next‑generation Sequencing

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

A Targeted Next-Generation Sequencing Method for Identifying Clinically Relevant Mutation Profiles in Lung Adenocarcinoma

Scientific Reports

Multidisciplinary

English

Identification of TAZ Mutations in Pediatric Patients With Cardiomyopathy by Targeted Next-Generation Sequencing in a Chinese Cohort

Orphanet Journal of Rare Diseases

English