Titlebook: Alpha-1 Antitrypsin; Role in Health and D Adam Wanner,Robert A. Sandhaus Book 2016 Springer International Publishing Switzerland 2016 Genet

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Jaroslav Smítal,Marta ?tefánková barrier to lifestyle modifications, genetic counseling, and specific treatment. Targeted screening allows for high detection rates and lower costs than population screening. Little is known about the prevalence and demographic and clinical characteristics of individuals with the main AATD genotypes

AMOR

Ashwini Jadhav,Sankunny Mohan Karuppayil emphysema and/or bronchiectasis (Silverman and Sandhaus, N Engl J Med 360(26):2749–57, 2009). It also represents the most common reason that an adult is tested for AATD (The Alpha 1-Antitrypsin Deficiency Registry Study Group, Chest 106(4):1223–32, 1994). This bias toward testing individuals with l

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秘密會(huì)議

抗原

Agnosia

figure

珊瑚

Alpha-1-Antitrypsin and the Serpins,ease can result in both loss-of-function and gain-of-function disabilities. In biology, α-1-antitrypsin is the archetype of an extensive superfamily of serine proteinase inhibitors, the serpins, which control essential intra- and extracellular functions. A central feature of the serpins is their ext

聰明

Obvious

Misfolding and Polymerisation of Alpha1-Antitrypsin: Conformational Pathology and Therapeutic Targe such as the common Z (Glu342Lys) variant vulnerable to misfolding and polymerisation that underlie the disease mechanisms of α1 -antitrypsin deficiency. Combinations of gain- and loss-of-function effects explain the observed disease behaviour. Detailed studies of these processes lead to hypotheses