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[The effect of the age of the father at conception on the mutations to hemphilia A].

作者信息

Herrmann J

出版信息

Humangenetik. 1966;3(1):1-16. doi: 10.1007/BF00273014.

DOI:10.1007/BF00273014
PMID:5986052
Abstract
摘要

相似文献

1
[The effect of the age of the father at conception on the mutations to hemphilia A].
Humangenetik. 1966;3(1):1-16. doi: 10.1007/BF00273014.
2
[Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A].[在一个请求对甲型血友病进行产前诊断的家庭中鉴定凝血因子VIII:C基因的新发突变]
Bratisl Lek Listy. 1992 Sep;93(9):459-62.
3
Novel Mutations Resulting in a Moderate to Severe Phenotypic Manifestation of Hemophilia A in a Female.
J Pediatr Hematol Oncol. 2017 Oct;39(7):e403-e405. doi: 10.1097/MPH.0000000000000832.
4
Some aspects of the occurrence of new mutations in haemophilia.血友病中新突变发生的一些方面。
Hum Hered. 1979;29(2):90-4. doi: 10.1159/000153022.
5
[The development of hemophilia A through mutations in male germ cells].[男性生殖细胞突变导致甲型血友病的发生]
Dtsch Med Wochenschr. 1966 Dec 23;91(51):2290-2. doi: 10.1055/s-0028-1111688.
6
Population genetics and hemophilia--implications of mutation and carrier recognition.群体遗传学与血友病——突变及携带者识别的影响
Ann N Y Acad Sci. 1975 Jan 20;240:121-31. doi: 10.1111/j.1749-6632.1975.tb53332.x.
7
Mutation rate in hemophilia A and B, and effect of parental age.
Bibl Haematol. 1966;26:91-3. doi: 10.1159/000384538.
8
Effect of prothrombotic mutations on factor consumption in children with hemophilia.凝血因子突变对儿童血友病患者因子消耗的影响。
Clin Appl Thromb Hemost. 2013 Jul-Aug;19(4):445-8. doi: 10.1177/1076029612438610. Epub 2012 Mar 12.
9
Spontaneous mutation in the male gamete as a cause of hemophilia A: clarification of a case using DNA probes.男性配子中的自发突变作为甲型血友病的一个病因：使用DNA探针对一个病例的阐明。
Am J Hematol. 1988 Jul;28(3):167-9. doi: 10.1002/ajh.2830280307.
10
The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations.西班牙南部甲型血友病患者的突变谱及28个新突变的鉴定
Haematologica. 2005 May;90(5):707-10.

引用本文的文献

1
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.147例散发性甲型血友病患者凝血因子VIII缺陷的特征：家系研究表明突变频率的性别比取决于突变类型。
Am J Hum Genet. 1996 Apr;58(4):657-70.
2
Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A.血友病A中突变频率性别比的直接和间接估计
Am J Hum Genet. 1993 Dec;53(6):1229-38.
3
Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

本文引用的文献

1
The mutation rate of the gene for haemophilia, and its segregation ratios in males and females.血友病基因的突变率及其在男性和女性中的分离比例。
Ann Eugen. 1947 Jun;13(4):262-71. doi: 10.1111/j.1469-1809.1946.tb02367.x.
2
A simple exact test for birth-order effect.
Ann Eugen. 1948 Apr;14(2):117-24. doi: 10.1111/j.1469-1809.1947.tb02383.x.
3
Genetic Considerations in Familial Hemorrhagic Disease. I. The Sex-Linked Recessive Disorders, Hemophilia and PTC Deficiency.家族性出血性疾病的遗传学考量。I. 性连锁隐性疾病、血友病和血浆凝血活酶前体缺乏症。
杜氏肌营养不良症：发病机制及基因预防
Hum Genet. 1984;66(1):17-40. doi: 10.1007/BF00275183.
4
[On the genetics of myositis ossificans progressiva].[关于进行性骨化性肌炎的遗传学]
Humangenetik. 1967;4(4):320-51. doi: 10.1007/BF00285740.
5
Human mutations and paternal age.
Humangenetik. 1972;16(1):77-82. doi: 10.1007/BF00393990.
6
Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta.年长父亲发生显性突变的风险：来自成骨不全症的证据。
J Med Genet. 1986 Jun;23(3):227-30. doi: 10.1136/jmg.23.3.227.
7
Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.将伴有面部、牙齿和骨骼特征的X连锁白内障和小角膜基因定位到Xp22：对南斯-霍兰综合征的评估
Trans Am Ophthalmol Soc. 1989;87:658-728.
8
Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis.甲型血友病突变频率的性别比：估计与荟萃分析。
Hum Genet. 1990 Dec;86(2):139-46. doi: 10.1007/BF00197695.
9
A probable sex difference in some mutation rates.某些突变率可能存在性别差异。
Am J Hum Genet. 1977 May;29(3):312-9.
Am J Hum Genet. 1963 Mar;15(1):53-61.
4
Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates.血友病散发病例及突变率可能存在的性别差异问题。
Am J Hum Genet. 1962 Jun;14(2):159-69.
5
Carriers of hemophilia A: a laboratory study.甲型血友病携带者：一项实验室研究。
Acta Med Scand. 1959 Dec 5;165:357-70.
6
[SURVEYS ON THE DETERMINATION OF THE MUTATION RATE FOR HEMOPHILIA A AND B IN HAMBURG].
Z Mensch Vererb Konstitutionsl. 1963 Dec 17;37:251-68.
7
PATERNAL AGE EFFECT FOR CLEFT LIP AND PALATE.唇腭裂的父亲年龄效应
Am J Hum Genet. 1963 Dec;15(4):389-93.
8
[THE HEREDITY OF HEMOPHILIA A].[甲型血友病的遗传]
Internist (Berl). 1963 Sep;4:397-400.
9
The carrier state in hemophilia A.甲型血友病的携带者状态。
J Pediatr. 1962 Jan;60:77-83. doi: 10.1016/s0022-3476(62)80012-2.
10
Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.阿佩尔综合征（一种尖头并指畸形）——对英国39例病例的观察
Ann Hum Genet. 1960 May;24:151-64. doi: 10.1111/j.1469-1809.1959.tb01728.x.