α1-Antitrypsin Gene Mutation Hot Spot Associated with the Formation of a Retained and Degraded Null Variant

American Journal of Respiratory Cell and Molecular Biology

Volumn 16, Issue 3, 1997, Pages 225-231

  Brantly, Mark ^a   Lee, Jung Hwa ^b   Hildeshiem, Jeffery ^b   Uhm, Chang Sub ^b   Prakash, Udaya B S ^b   Staats, Bruce A ^b   Crystal, Ronald G ^b  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CRICETINAE; CRICETULUS GRISEUS;

ALPHA 1 ANTITRYPSIN; MESSENGER RNA;

ANIMAL; ARTICLE; BIOSYNTHESIS; CHEMISTRY; CHO CELL; EMPHYSEMA; FEMALE; FRAMESHIFT MUTATION; GENETIC TRANSFECTION; GENETICS; GOLGI COMPLEX; HAMSTER; HUMAN; MALE; METABOLISM; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ROUGH ENDOPLASMIC RETICULUM; SECRETION;

ALPHA 1-ANTITRYPSIN; ANIMALS; CHO CELLS; CRICETINAE; DNA MUTATIONAL ANALYSIS; EMPHYSEMA; ENDOPLASMIC RETICULUM, ROUGH; FEMALE; FRAMESHIFT MUTATION; GOLGI APPARATUS; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, MESSENGER; TRANSFECTION;

EID: 0000840983     PISSN: 10441549     EISSN: None     Source Type: Journal    
DOI: 10.1165/ajrcmb.16.3.9070606     Document Type: Article

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