Genetics of obstructive airways disease: Cystic fibrosis, α-1 antitrypsin deficiency, and Hermansky-Pudlak syndrome

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Immunology and Allergy Clinics of North America

• Publication date

  2002-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/S0889-8561(01)00010-8
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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  1998influential reference
• α1-Antitrypsin

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