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Functional Characterization of a Naturally Occurring Cx50 Truncation
Investigative Opthalmology & Visual Science
◽
10.1167/iovs.05-1582
◽
2006
◽
Vol 47
(10)
◽
pp. 4474
◽
Cited By ~ 25
Author(s):
Adam M. DeRosa
◽
Rickie Mui
◽
Miduturu Srinivas
◽
Thomas W. White
Keyword(s):
Functional Characterization
◽
Naturally Occurring
Download Full-text
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Abstract 690: Functional characterization of RPS6KA3 (RSK2) and identification of its naturally occurring mutants in hepatocellular carcinoma
10.1158/1538-7445.am2016-690
◽
2016
◽
Author(s):
Lo-Kong Chan
◽
Daniel Wai-Hung Ho
◽
Yung-Tuen Chiu
◽
Alan Ka-Lun Kai
◽
Chun-Ming Wong
◽
...
Keyword(s):
Hepatocellular Carcinoma
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Functional Characterization
◽
Naturally Occurring
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Functional Characterization of Two Naturally Occurring Mutations in the Human Sodium-Phosphate Cotransporter Type IIa
Journal of Bone and Mineral Research
◽
10.1359/jbmr.2003.18.12.2135
◽
2003
◽
Vol 18
(12)
◽
pp. 2135-2141
◽
Cited By ~ 65
Author(s):
Leila V Virkki
◽
Ian C Forster
◽
Nati Hernando
◽
JÜRg Biber
◽
Heini Murer
Keyword(s):
Sodium Phosphate
◽
Functional Characterization
◽
Naturally Occurring
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Functional Characterization of Naturally Occurring Mutations of the Human Adrenocorticotropin Receptor: Poor Correlation of Phenotype and Genotype
The Journal of Clinical Endocrinology & Metabolism
◽
10.1210/jc.84.8.2766
◽
1999
◽
Vol 84
(8)
◽
pp. 2766-2770
◽
Cited By ~ 23
Author(s):
L. L. K. Elias
Keyword(s):
Functional Characterization
◽
Poor Correlation
◽
Naturally Occurring
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Functional Characterization of Naturally Occurring Mutant Androgen Receptors from Subjects with Complete Androgen Insensitivity
Molecular Endocrinology
◽
10.1210/mend-4-12-1759
◽
1990
◽
Vol 4
(12)
◽
pp. 1759-1772
◽
Cited By ~ 83
Author(s):
Terry R. Brown
◽
Dennis B. Lubahn
◽
Elizabeth M. Wilson
◽
Frank S. French
◽
Claude J. Migeon
◽
...
Keyword(s):
Androgen Receptors
◽
Functional Characterization
◽
Androgen Insensitivity
◽
Naturally Occurring
Download Full-text
In Vitro Functional Characterization of SAG-3 — A Naturally Occurring Monoclonal Antibody in NZB Mice: Specificity Toward Functional T Cell Subsets
Hybridoma
◽
10.1089/hyb.1988.7.609
◽
1988
◽
Vol 7
(6)
◽
pp. 609-625
Author(s):
CHARLES D. SURH
◽
AFTAB ANSARI
◽
M. ERIC GERSHWIN
Keyword(s):
Monoclonal Antibody
◽
T Cell
◽
Functional Characterization
◽
T Cell Subsets
◽
Naturally Occurring
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Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor (eFSHR)
Animal Bioscience
◽
10.5713/ab.21.0246
◽
2021
◽
Author(s):
Munkhzaya Byambaragchaa
◽
Tae-Young Ahn
◽
Seung-Hee Choi
◽
Myung-Hwa Kang
◽
Kwan-Sik Min
Keyword(s):
Hormone Receptor
◽
Follicle Stimulating Hormone
◽
Functional Characterization
◽
Naturally Occurring
◽
Inactivating Mutations
◽
Stimulating Hormone
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Functional characterization of naturally occurring mutations in the melanocortin receptor accesory protein 2 (MRAP2)
Endocrine Abstracts
◽
10.1530/endoabs.41.oc12.1
◽
2016
◽
Author(s):
Heike Biebermann
◽
Laura Schonnop
◽
Nikolas Herrfurth
◽
Anna-Lena Volckmar
◽
Anne Muller
◽
...
Keyword(s):
Functional Characterization
◽
Melanocortin Receptor
◽
Naturally Occurring
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Functional characterization of two naturally occurring mutations V 221 G and T 449 N in the follicle stimulating hormone receptor
Molecular and Cellular Endocrinology
◽
10.1016/j.mce.2016.11.020
◽
2017
◽
Vol 440
◽
pp. 69-79
◽
Cited By ~ 5
Author(s):
Antara A. Banerjee
◽
Swati K. Achrekar
◽
Shaini Joseph
◽
Bhakti R. Pathak
◽
Smita D. Mahale
Keyword(s):
Hormone Receptor
◽
Follicle Stimulating Hormone
◽
Functional Characterization
◽
Naturally Occurring
◽
Stimulating Hormone
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Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations
Human Mutation
◽
10.1002/humu.20173
◽
2005
◽
Vol 26
(1)
◽
pp. 20-28
◽
Cited By ~ 17
Author(s):
Karim Chikh
◽
Céline Rodriguez
◽
Sébastien Vey
◽
Marie T. Vanier
◽
Gilles Millat
Keyword(s):
Functional Characterization
◽
Subcellular Location
◽
Missense Mutations
◽
Naturally Occurring
◽
Type C
◽
Niemann Pick
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Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family
Human Mutation
◽
10.1002/humu.21486
◽
2011
◽
Vol 32
(6)
◽
pp. 643-652
◽
Cited By ~ 22
Author(s):
Meriem Ben-Ali
◽
Beatrice Corre
◽
Jérémy Manry
◽
Luis B. Barreiro
◽
Hélène Quach
◽
...
Keyword(s):
Gene Family
◽
Genetic Variants
◽
Functional Characterization
◽
Naturally Occurring
Download Full-text
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