Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia-Reference-Cited by-同舟云学术

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Published:2011-10 Issue:10 Volume:131 Page:2017-2025
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Cullinane Andrew R.,Vilboux Thierry,O'Brien Kevin,Curry James A.,Maynard Dawn M.,Carlson-Donohoe Hannah,Ciccone Carla,NISC Comparative Sequencing Program ,Markello Thomas C.,Gunay-Aygun Meral,Huizing Marjan,Gahl William A.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference40 articles.

1. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico;Anikster;Nat Genet,2001

2. Accurate whole human genome sequencing using reversible terminator chemistry;Bentley;Nature,2008

3. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as “OCA3”;Boissy;Am J Hum Genet,1996

4. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis;Bonilla;N Engl J Med,1989

5. A syndrome with congenital neutropenia and mutations in G6PC3;Boztug;N Engl J Med,2009

Cited by 66 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Immunologists’ Perspectives on Monogenic Inflammatory Bowel Diseases;Turkish Journal of Immunology;2024-04-18

2. Expression and Mutation of <i>SLC45A2</i> Affects Iris Color in Quail;The Journal of Poultry Science;2024

3. Techniques for the Diagnosis of Rare Genetic Disorders;Rare Genetic Disorders;2024

4. Intestinal Immune Imbalance is an Alarm in the Development of IBD;Mediators of Inflammation;2023-07-31

5. Transcriptome Profile Analysis Identifies Candidate Genes for the Melanin Pigmentation of Skin in Tengchong Snow Chickens;Veterinary Sciences;2023-05-11