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Partial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations.

作者信息

Alizadeh Zahra, Nabilou Susan, Mazinani Marzieh, Tajik Shaghayegh, Hamidieh Amir Ali, Houshmand Masoud, Fazlollahi Mohammad Reza, Pourpak Zahra

机构信息

Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

Pediatric Stem Cell Transplant Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Scand J Immunol. 2021 Jan;93(1):e12966. doi: 10.1111/sji.12966. Epub 2020 Sep 14.

DOI:10.1111/sji.12966
PMID:32869296
Abstract
摘要

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引用本文的文献

1
Hemophagocytic Lymphohistiocytosis Associated with Synergistic Defects of and Genes: A Case Report and Literature Review.与 和 基因协同缺陷相关的噬血细胞性淋巴组织细胞增生症:一例报告及文献综述
J Clin Med. 2022 Dec 22;12(1):95. doi: 10.3390/jcm12010095.
2
Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.通过二代测序检测结构变异:揭示溶酶体贮积症中的缺失等位基因
Biomedicines. 2022 Jul 29;10(8):1836. doi: 10.3390/biomedicines10081836.
3
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.
2型Hermansky-Pudlak综合征:青少年重度牙周炎的罕见病因——病例报告
Front Pediatr. 2022 Jul 19;10:914243. doi: 10.3389/fped.2022.914243. eCollection 2022.
4
Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion.格里塞利综合征患者的难治性癫痫发作:一例具有一种突变和一种新型缺失的独特病例。
Cureus. 2021 Apr 10;13(4):e14402. doi: 10.7759/cureus.14402.