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Dominant mutations of Col4a1 result in basement membrane defects which leadto anterior segment dysgenesis and glomerulopathy.
Tom Van Agtmael, Tom Van Agtmael, Lisa McKie, David G Brownstein, Angela W Lee, Sally H Cross, Yoshikazu Sado, John J Mullins, John J Mullins, Ian J Jackson
Human Molecular Genetics 2005; 14(21):3161-3168
ICID: 436323
IC™ Value: 17.80
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