A G to A transition at the last nucleotide of exon 6 of the γc gene (868G→A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency

Nobuko Kanai; Fumio Yanai; S. Hirose; Keiko Nibu; Kenji Izuhara; Tokio Tani; Takeo Kubota; Akihisa Mitsudome

doi:10.1007/s004390050907

A G to A transition at the last nucleotide of exon 6 of the γc gene (868G→A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency

Human Genetics ◽

10.1007/s004390050907 ◽

1999 ◽

Vol 104 (1) ◽

pp. 36-42 ◽

Cited By ~ 12

Author(s):

Nobuko Kanai ◽

Fumio Yanai ◽

S. Hirose ◽

Keiko Nibu ◽

Kenji Izuhara ◽

...

Keyword(s):

Missense Mutation ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency

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Homozygosity for a Missense Mutation (G20R) Associated with Neonatal Onset Adenosine Deaminase-Deficient Severe Combined Immunodeficiency (ADA-SCID)

Clinical Immunology and Immunopathology ◽

10.1006/clin.1994.1026 ◽

1994 ◽

Vol 70 (2) ◽

pp. 171-175 ◽

Cited By ~ 6

Author(s):

Diana Ruixi Yang ◽

Maryann L. Huie ◽

Rochelle Hirschhorn

Keyword(s):

Adenosine Deaminase ◽

Missense Mutation ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Neonatal Onset

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Severe Combined Immunodeficiency of Reduced Severity Due to Homozygosity for an Adenosine Deaminase Missense Mutation (ARG253PRO)

Cellular Immunology ◽

10.1006/cimm.1993.1299 ◽

1993 ◽

Vol 152 (2) ◽

pp. 383-393 ◽

Cited By ~ 9

Author(s):

Rochelle Hirschhorn ◽

Diana Ruixi Yang ◽

Richard A. Insel ◽

Mark Ballow

Keyword(s):

Adenosine Deaminase ◽

Missense Mutation ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency

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Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C

Pediatric Allergy and Immunology ◽

10.1111/pai.12812 ◽

2017 ◽

Vol 29 (1) ◽

pp. 108-111 ◽

Cited By ~ 1

Author(s):

Mikael Sundin ◽

Michael Uhlin ◽

Ahmed Gaballa ◽

Kim Ramme ◽

Antonios GA Kolios ◽

...

Keyword(s):

Missense Mutation ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Atypical Severe Combined Immunodeficiency

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A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency

Human Molecular Genetics ◽

10.1093/hmg/2.8.1307 ◽

1993 ◽

Vol 2 (8) ◽

pp. 1307-1308 ◽

Cited By ~ 3

Author(s):

Ulus Atasoy ◽

Colette J. Norby-Slycord ◽

M.Louise Markert

Keyword(s):

Adenosine Deaminase ◽

Missense Mutation ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Exon 4

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600: Effect of Dietary Omega-6 Fatty Acid on Androgen-Independent Prostate Tumor Progression and Survival in Severe Combined Immunodeficiency Mice

The Journal of Urology ◽

10.1016/s0022-5347(18)37862-5 ◽

2004 ◽

Vol 171 (4S) ◽

pp. 159-160

Author(s):

Tung Ngo ◽

James Barnard ◽

Todd Anton ◽

Chris Tran ◽

David Elashoff ◽

...

Keyword(s):

Fatty Acid ◽

Tumor Progression ◽

Severe Combined Immunodeficiency ◽

Prostate Tumor ◽

Combined Immunodeficiency ◽

Omega 6 ◽

Androgen Independent

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HETERORESISTANCE FOR RIFAMPICIN IN AN INFANT WITH DISSEMINATED TB AND JAK 3 HOMOZYGOUS SEVERE COMBINED IMMUNODEFICIENCY

10.26226/morressier.59063dc1d462b80290b51dea ◽

2017 ◽

Author(s):

Vidya Krishna

Keyword(s):

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency

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ADENOSINE DEAMINASE DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY WITH HYPERTROPHIC CARDIOMYOPATHY

10.26226/morressier.594a7d47d462b8028d893816 ◽

2017 ◽

Author(s):

Flinn Aisling

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Adenosine Deaminase ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency

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Treatment of refractory norovirus infection with enteral inmmunoglobulin in patients with severe combined immunodeficiency

10.26226/morressier.5acdc65bd462b8029238d8a4 ◽

2018 ◽

Author(s):

ROSELLA LEE

Keyword(s):

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency

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Faculty Opinions recommendation of Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1005837.70356 ◽

2002 ◽

Author(s):

Seppo Yla-Herttuala

Keyword(s):

Gene Therapy ◽

Ex Vivo ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Ex Vivo Gene Therapy

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Faculty Opinions recommendation of Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1142879.599967 ◽

2009 ◽

Author(s):

Antony Basten

Keyword(s):

Attention Deficit Hyperactivity Disorder ◽

Attention Deficit ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Hyperactivity Disorder

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