Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1.

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Abstract

Prenatal diagnosis was required in two unrelated families with chronic granulomatous disease (CGD) patients who lacked expression of p47(phox) protein; thus a search for mutations in NCF1 was undertaken.

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Journal

Journal ID (iso-abbrev): Prenat Diagn

Title: Prenatal diagnosis

Publisher: Wiley

ISSN: 0197-3851

ISSN (Print): 0197-3851

Publication date (Electronic): Mar 2002

Volume: 22

Issue: 3

Affiliations

[1 ] Central Laboratory of the Netherlands Blood Transfusion Service (CLB), and Laboratory for Experimental and Clinical Immunology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

Article

Publisher Item ID: 10.1002/pd.296

DOI: 10.1002/pd.296

PubMed ID: 11920901

SO-VID: 0964e565-29a2-46d9-9be2-52cf4e0a36ac

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