Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy

Tom Van Agtmael, Ursula Schlötzer-Schrehardt, Lisa McKie, David G. Brownstein, Angela W. Lee, Sally H. Cross, Yoshikazu Sado, John J. Mullins, Ernst Pöschl, Ian J. Jackson

Research output: Contribution to journalArticlepeer-review

123 Citations (Scopus)
Original languageEnglish
Pages (from-to)3161-3168
Number of pages8
JournalHuman Molecular Genetics
Volume14
Issue number21
DOIs
Publication statusPublished - 2005

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