Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2
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W. Gahl | M. Huizing | Y. Anikster | L. Hartnell | E. Strovel | C. Scher | D. Fitzpatrick | Diana L. Fitzpatrick | Erin Strovel