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Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2

  • Published:2002-02 Issue:2 Volume:51 Page:150-158
  • ISSN:0031-3998
  • Container-title:Pediatric Research
  • language:
  • Short-container-title:Pediatr Res

Author:

Huizing Marjan,Scher Charles D,Strovel Erin,Fitzpatrick Diana L,Hartnell Lisa M,Anikster Yair,Gahl William A

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

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