Journal Article (Letter)

DKFZ-2026-01718

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Long-read sequencing reveals SVA insertion in AP3B1 causing Hermansky-Pudlak syndrome 2.

Baba, N. ; Elashy, A.DKFZ* ; Wegehaupt, O. ; Zieger, B. ; Felek, M. ; Ferro, M. ; Gilmour, K. ; Fischer, U. ; Borkhardt, A. ; Ehl, S. ; Koppstein, D.DKFZ* ; Ghosh, S.

2026
Wiley-Blackwell Oxford [u.a.]

Keyword(s): AP3B1 ; Hermansky–Pudlak syndrome type 2 ; inborn errors of immunity ; long‐read sequencing ; lysosomal trafficking disorders ; retrotransposon insertion

Note: #DKTKZFB26#

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Contributing Institute(s):

1. DKTK Koordinierungsstelle Essen/Düsseldorf (ED01)
2. DKTK Krebs-Bioinformatik und Multiomics (ED08)

Research Program(s):

1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2026

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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