A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2020.103854 ◽

2020 ◽

Vol 63 (4) ◽

pp. 103854

Author(s):

Eduard Permanyer ◽

Steven Laurie ◽

Arnau Blasco-Lucas ◽

Giuliana Maldonado ◽

Amaya Amador-Catalan ◽

...

Keyword(s):

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

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Identification of a new HLA-A02 allele, HLA-A02:305 N, which differs from the HLA-A*02:01:01 allele by a single nucleotide deletion in exon 4

Tissue Antigens ◽

10.1111/j.1399-0039.2011.01785.x ◽

2011 ◽

Vol 79 (2) ◽

pp. 130-131 ◽

Author(s):

B. Weschler ◽

S. Bert ◽

D. Hanau ◽

A. Parissiadis ◽

S. Tourne

Keyword(s):

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

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A Single Nucleotide Deletion in the e Subunit of the Acetylcholine Receptor (AChR) in Five Congenital Myasthenic Syndrome Patients with AChR Deficiencya

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.1998.tb10927.x ◽

1998 ◽

Vol 841 (1 MYASTHENIA GR) ◽

pp. 195-198 ◽

Author(s):

REBECCA CROXEN ◽

DAVID BEESON ◽

CLAIRE NEWLAND ◽

MARIA BETTY ◽

ANGELA VINCENT ◽

...

Keyword(s):

Acetylcholine Receptor ◽

Congenital Myasthenic Syndrome ◽

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

Myasthenic Syndrome

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Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family

Journal of Korean Medical Science ◽

10.3346/jkms.2013.28.9.1388 ◽

2013 ◽

Vol 28 (9) ◽

pp. 1388 ◽

Author(s):

Jong Keun Park ◽

Yong-Seog Oh ◽

Jee-hyun Choi ◽

Sungjoo Kim Yoon

Keyword(s):

Deletion Mutation ◽

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

Korean Family ◽

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A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

Journal of Human Genetics ◽

10.1007/s100380200023 ◽

2002 ◽

Vol 47 (4) ◽

pp. 196-201 ◽

Author(s):

R. Suminaga ◽

Y. Takeshima ◽

K. Adachi ◽

M. Yagi ◽

H. Nakamura ◽

...

Keyword(s):

Dystrophin Gene ◽

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Cryptic Exon ◽

Nucleotide Deletion

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A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

Allergy ◽

10.1111/j.1398-9995.2011.02658.x ◽

2011 ◽

Vol 66 (10) ◽

pp. 1384-1390 ◽

Author(s):

M. F. Ferraro ◽

A. S. Moreno ◽

E. C. Castelli ◽

E. A. Donadi ◽

M. S. Palma ◽

...

Keyword(s):

Hereditary Angioedema ◽

C1 Inhibitor ◽

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

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Raffelsberger T, Rossmanith W, Thaller-Antlanger H, et al. CPEO associated with a single nucleotide deletion in the mitochondrial tRNA gene.

Journal of Neuro-Ophthalmology ◽

10.1097/00041327-200206000-00046 ◽

2002 ◽

Vol 22 (2) ◽

pp. 144

Author(s):

Kathleen B. Digre

Keyword(s):

Trna Gene ◽

Mitochondrial Trna ◽

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

Mitochondrial Trna Gene

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31-OR: Single Nucleotide Deletion on Exon 2 Causes a Novel Null DRB1*01 Allele

Human Immunology ◽

10.1016/j.humimm.2010.06.243 ◽

2010 ◽

Vol 71 ◽

pp. S132

Author(s):

Andrea A. Zimmerman ◽

Laura K. Spruit ◽

Walter F. Herczyk ◽

Janine M. Ternes ◽

Jerome G. Weidner ◽

...

Keyword(s):

Single Nucleotide ◽

Exon 2 ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion

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A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2010.02.018 ◽

2010 ◽

Vol 86 (4) ◽

pp. 596-603 ◽

Author(s):

Johanna Dahlqvist ◽

Joakim Klar ◽

Neha Tiwari ◽

Jens Schuster ◽

Hans Törmä ◽

...

Keyword(s):

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

Transcriptional Switch

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A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis ◽

10.1016/s0027-5107(02)00315-9 ◽

2003 ◽

Vol 525 (1-2) ◽

pp. 61-65 ◽

Author(s):

Cuiying Xiao ◽

Sizhong Zhang ◽

Jun Wang ◽

Weimin Qiu ◽

Leiting Chi ◽

...

Keyword(s):

Chinese Family ◽

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

Spondyloepiphyseal Dysplasia ◽

Spondyloepiphyseal Dysplasia Tarda

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Single nucleotide deletion of cqm1 gene results in the development of resistance to Bacillus sphaericus in Culex quinquefasciatus

Journal of Insect Physiology ◽

10.1016/j.jinsphys.2013.07.002 ◽

2013 ◽

Vol 59 (9) ◽

pp. 967-973 ◽

Author(s):

Qing-yun Guo ◽

Quan-xin Cai ◽

Jian-ping Yan ◽

Xiao-min Hu ◽

Da-sheng Zheng ◽

...

Keyword(s):

Culex Quinquefasciatus ◽

Bacillus Sphaericus ◽

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

Development Of Resistance

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