Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource, 1 online resource.

Language: Englisch

Bibliographic citation: Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients ; volume:49 ; number:1 ; day:2 ; month:8 ; year:2023 ; pages:1-9 ; date:12.2023
The Italian journal of pediatrics ; 49, Heft 1 (2.8.2023), 1-9, 12.2023

Creator: Gul, Irum
Khan, Taj Ali
Akbar, Noor ul
Gul, Naila
Ali, Rehman
Khan, Shahid Niaz

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13052-023-01496-7

URN: urn:nbn:de:101:1-2023110109073902619745

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:49 AM CEST

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Gul, Irum
Khan, Taj Ali
Akbar, Noor ul
Gul, Naila
Ali, Rehman
Khan, Shahid Niaz
SpringerLink (Online service)

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Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients

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Other Objects (12)

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Biological and structural characterizations of mutations in X-linked spondyloepiphyseal dysplasia tarda

Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

Easily misdiagnosed X-linked adrenoleukodystrophy

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

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Biological and structural characterizations of mutations in X-linked spondyloepiphyseal dysplasia tarda

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Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

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X-linked disorders with cerebellar dysgenesis

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