TY  - CHAP
M1  - Book, Section
TI  - Chronic Obstructive Pulmonary Disease and α1-Antitrypsin Deficiency
A1  - Kotton, Darrell N.
A1  - Wilson, Andrew A.
A2  - Grippi, Michael A.
A2  - Antin-Ozerkis, Danielle E.
A2  - Dela Cruz, Charles S.
A2  - Kotloff, Robert M.
A2  - Kotton, Camille Nelson
A2  - Pack, Allan I.
PY  - 2023
T2  - Fishman’s Pulmonary Diseases and Disorders, 6e
AB  - While  predisposition  to  COPD  is  widely  known  to  have  a  significant  genetic  basis,1  the  only  known  monogenic  cause  is  the  genetic  mutation  that  results  in  α-1  antitrypsin  deficiency  (AATD).  AATD  was  first  identified  in  1963  by  Laurell  and  Eriksson,  who  initially  described  a  cohort  of  five  individuals  lacking  the  α1  globulin  fraction,  as  revealed  with  serum  protein  electrophoresis.  Three  of  the  five  suffered  from  significant  pulmonary  disease.2  Subsequently,  AATD  was  shown  to  result  from  the  homozygous  inheritance  of  a  single  base-pair  mutation  in  the  SERPINA1  gene,  which  encodes  α1-antitrypsin  protein.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1194950175
ER  -