SERPINA1 Full Gene Sequencing Identifies Rare Mutations Not Detected by Conventional Testing and Should Be Part of the A1AT Deficiency Diagnostic Algorithm

被引：0

作者：

Graham, R. P. ^{[1
]}

Dina, M. A. ^{[1
]}

Howe, S. C. ^{[1
]}

Willkomm, K. S. ^{[1
]}

Murray, D. L. ^{[1
]}

Snyder, M. ^{[1
]}

Rumilla, K. ^{[1
]}

Halling, K. C. ^{[1
]}

Highsmith, W. E. ^{[1
]}

机构：

[1] Mayo Clin, Rochester, MN USA

来源：

JOURNAL OF MOLECULAR DIAGNOSTICS | 2014年 / 16卷 / 06期

关键词：

D O I：

暂无

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

G10

引用

页码：701 / 701

页数：1

共 8 条

[1] SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis
Graham, Rondell P.
Dina, Michelle A.
Howe, Sarah C.
Butz, Malinda L.
Willkomm, Kurt S.
Murray, David L.
Snyder, Melissa R.
Rumilla, Kandelaria M.
Halling, Kevin C.
Highsmith, W. Edward, Jr.
JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (06): : 689 - 694
[2] Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection
Schuler, Bryce A.
Bastarache, Lisa
Wang, Janey
He, Jing
Van Driest, Sara L.
Denny, Joshua C.
PLOS ONE, 2023, 18 (08):
[3] Whole exome sequencing in a juvenile idiopathic arthritis large family with SERPINA1 gene mutations
Popescu, Cyprian
BMC RHEUMATOLOGY, 2022, 6 (01)
[4] Whole exome sequencing in a juvenile idiopathic arthritis large family with SERPINA1 gene mutations
Cyprian Popescu
BMC Rheumatology, 6
[5] Comprehensive Gene Resequencing of SERPINA1 in SPIROMICS Reveals Novel Rare Loci for α1-Antitrypsin Deficiency and Emphysema
Ortega, V. E.
Hawkins, G. A.
Li, X.
O'Neal, W. K.
Manichaikul, A.
Barr, R.
Cooper, C. B.
Couper, D.
Curtis, J. L.
Han, M. K.
Hansel, N. N.
Kanner, R. E.
Martinez, F. J.
Paine, R.
Wells, J. M.
Woodruff, P.
Hoffman, E. A.
Peters, S. P.
Meyers, D. A.
Bleecker, E. R.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2018, 197
[6] Molecular Characterization Of Novel Rare Variants Of Serpina1 Gene In Alpha-1 Antitrypsin Deficiency Patients From Spain
Martinez-Delgado, B.
Matamala, N.
Lara, B.
Saez, R.
Castillo, S.
Molina, M.
Texido, A.
Retana, D.
Fernandez, T.
Otero, A.
Lopez, L.
Blanco, I.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2016, 193
[7] Comprehensive Sequencing Identifies Rare Serpina1 Variants Associated With Asthma-Related Health Care Utilization In The Severe Asthma Research Program (sarp)
Ortega, V. E.
Pasha, S.
Castro, M.
Erzurum, S. C.
Fahy, J. V.
Israei, E.
Jarjour, N. N.
Wenzel, S. E.
Hawkins, G.
Bleecker, E.
Meyers, D.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2017, 195
[8] Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy
Li, Kun
Jin, Runming
Wu, Xiaoyan
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (01)

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