Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders 来自 国家科技图书文献中心 喜欢 0 阅读量: 47 作者: I Zafar,V Geert,van der Voet Monique,WA Muhammad,ZM Yasir,JA Besseling,RL Tomas,Vulto-van Silfhout Anneke T.,N Bonnie,JM ...
Low homozygous/high heterozygous deletion status by p16 FISH correlates with a better prognostic group than high homozygous deletion status in malignant pl... Hamasaki, M., et al., Low homozygous/high heterozygous deletion status by p16 FISH correlates with a better prognostic group than high ...
The main indications for LDL-apheresis are the diagnosis of homozygous familial hypercholesterolemia, heterozygous familial hypercholesterolemia which is refractory the standard care and intolerance of routine care, and also patients with ... V Bláha,M Bláha,M Lánská,... - 《Vnitrni Lekarstvi》...
From parental phenotypes (heterozygous or homozygous normal) and urine amino acid excretion values at 6 months of age in probands, the infants were ... Charles,R.,Scriver,... - 《Journal of Pediatrics》 被引量: 43发表: 1985年 加载更多来源...
Using LDL receptor-deficient mice, we now show that atheroma development depends on M-CSF concentration, as not only did homozygous osteopetrotic (op/op) mice have dramatically reduced lesions (approximately 0.3% of control lesion size) but heterozygous (op/+) mice had lesions < 1% of ...
Restriction endonuclease mapping of the alpha-globin cluster and digestion with Mae I of the in vitro amplified 5' segment of the beta-globin gene shows a combination of triplicated alpha globin locus, anti-3.7 kb type, with heterozygous codon 39 C---T beta (0) thalassemic mutation. These,...
Human genetic studies indicate that ROMK homozygous loss-of-function mutations cause type II Bartter syndrome, featuring polyuria, renal salt wasting, and hypotension; humans heterozygous for ROMK mutations identified in the Framingham Heart Study have reduced blood pressure. ROMK null mice recapitulate...
Heterozygous mutations in the T (brachyury) gene 来自 掌桥科研 喜欢 0 阅读量: 23 作者:PF Giampietro,CL Raggio,RD Blank 摘要: To The Editor: We have read the paper by Postma et al 1 in the recent Journal of Medical Genetics describing a homozygous missense mutation, p.H171R T(brachyury...
在生物體內的這對因子可以為同型的,這種具同型基因的個體被稱為同基因型的(Homozygous 纯合子)個體;或為不同型的,具不同型的個體則稱為異基因型 (Heterozygous 杂合子)個體。第二、這些遺傳的因子在遺傳的過程中始終為一個獨立並保持不變的遺傳單位,由親代傳至子代(這個觀念與達爾文时期的生物遺傳上的混血式...
Bees heterozygous at Sex Determination Locus are females, whereas bees homozygous or hemizygous are males. Little is known, however, about the regulation that links sex determination to sexual differentiation. To investigate the control of sexual development in honeybees, we analyzed the functions and...