Associated Papers
A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.
Ozdemir L et al.
Croatian Medical Journal, 2024
Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.
Ferrarotti I et al.
Orphanet Journal of Rare Diseases, 2024
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Lopez-Campos JL et al.
Human Genomics, 2023
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 2022
35887629 (PubMed )
Supplement: jpm-12-01132-s001.zip › jpm-1782533-supplementary.xlsx › S1
Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.
Foil KE
Therapeutic Advances in Chronic Disease, 2021
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
32971794 (PubMed )
Supplement: jpm-10-00140-s001.pdf
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
Sofia VM et al.
Molecular Medicine (cambridge, Mass.), 2016
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