Literature DB >> 32869296

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

Zahra Alizadeh1, Susan Nabilou1, Marzieh Mazinani1, Shaghayegh Tajik1, Amir Ali Hamidieh2, Masoud Houshmand3, Mohammad Reza Fazlollahi1, Zahra Pourpak1.   

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Year:  2020        PMID： 32869296     DOI： 10.1111/sji.12966

Source DB:  PubMed          Journal:  Scand J Immunol        ISSN： 0300-9475            Impact factor:   3.487


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  2 in total

1.  Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.

Authors:  Jun Chen; Yifan Yang; Binjie Liu; Xiaoli Xie; Wenjie Li
Journal:  Front Pediatr       Date:  2022-07-19       Impact factor: 3.569

Review 2.  Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.

Authors:  Valentina La Cognata; Sebastiano Cavallaro
Journal:  Biomedicines       Date:  2022-07-29
  2 in total

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