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Keywords: Rare variant
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Journal Articles
Subject Area:
Genetics
Hum Hered (2016) 80 (3): 126–138.
Published Online: 29 April 2016
...Qi Yan; Daniel E. Weeks; Hemant K. Tiwari; Nengjun Yi; Kui Zhang; Guimin Gao; Wan-Yu Lin; Xiang-Yang Lou; Wei Chen; Nianjun Liu Objective: The kernel machine (KM) test reportedly performs well in the set-based association test of rare variants. Many studies have been conducted to measure phenotypes...
Journal Articles
Subject Area:
Genetics
Hum Hered (2013) 74 (3-4): 205–214.
Published Online: 11 April 2013
...Rémi Kazma; Niall J. Cardin; John S. Witte Objective: To determine whether accounting for gene-environment (G×E) interactions improves the power to detect associations between rare variants and a disease, we have extended three statistical methods and compared their power under various simulated...
Journal Articles
Journal Articles
Subject Area:
Genetics
Hum Hered (1988) 38 (6): 363–366.
Published Online: 02 September 2008
...M. Abbal; F. de Paoli; M. Cuccia-Belvedere; M. Martinetti A rare variant of complement C4 was found in 2 related individuals. It has the most anodic mobility found to date, no hemolytic activity detected by the overlay technique and a Bgl II RFLP pattern very similar to that of the C4A6 type. Hum...
Journal Articles
Subject Area:
Genetics
Hum Hered (1990) 40 (1): 58–60.
Published Online: 02 September 2008
.... Complement Factor B Rare variant Hum Hered 1990;40:58-60 © 1990S. Karger AG. Basel 0001-5652. 90/0401-0058 S 2.75/0 A New Complement Factor B Variant (BF S075) in Japanese Hiroaki Nishimukaia , Ikuro Maruyamab, Satoshi Takenagab, Hajime Kitamurac, Kenji Mizutanid , Takaaki Shinomiyaa Department...
Journal Articles
Subject Area:
Genetics
Hum Hered (1986) 36 (5): 336–338.
Published Online: 02 September 2008
...K. Suzuki; H. Matsumoto A rare variant of Factor B exhibiting a mobility intermediate between BF F and BF S was described. After comparison with the mobilities of BF F and F075, this variant was designated BF F025. The allele was transmitted together with C2*C, C4A*3, and C4B*1. 2 9 2008...
Journal Articles
Subject Area:
Genetics
Hum Hered (1975) 25 (2): 152–155.
Published Online: 28 August 2008
...Ch. Rittner; G. Müller 562 healthy blood donors and 65 families with 149 offspring were typed for esterase D (EsD). The observed allele frequencies are in good agreement with those determined in other Caucasian populations. The rare variant EsD 3 was found in a blood donor who transmitted it to his...
Journal Articles
Subject Area:
Genetics
Hum Hered (1972) 22 (3): 271–273.
Published Online: 27 August 2008
... to in the content or advertisements. LDH isoenzymes Rare variant Human Heredity 22: 271-273 (1972) A B Sub-Unit Variant of Lactate Dehydrogenase in Bulgaria R. Ananthakrishnan1. L. T sacheva and H. Walter Anthropologisches Institut, Mainz, and Institute for Morphology and Anatomy. Bulgarian Academy...