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Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates.

作者信息

KOSOWER N, CHRISTIANSEN R, MORTON N E

出版信息

Am J Hum Genet. 1962 Jun;14(2):159-69.

PMID:14458680
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1932269/
Abstract
摘要

相似文献

1
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.
2
Sex-chromatin pattern in a case of hemophilia.血友病一例的性染色质模式
J Pediatr. 1960 Jan;56:128-30. doi: 10.1016/s0022-3476(60)80297-1.
3
The effect of parental age on rates of mutation for hemophilia and evidence for differing mutation rates for hemophilia A and B.父母年龄对血友病突变率的影响以及血友病A和B不同突变率的证据。
Am J Hum Genet. 1968 May;20(3):175-96.
4
Segregation analysis of hemophilia A and B.甲型和乙型血友病的分离分析。
Am J Hum Genet. 1985 Jul;37(4):680-99.
5
[Genetics and hemophilia].[遗传学与血友病]
Probl Gematol Pereliv Krovi. 1966 Apr;11(4):7-15.
6
[Are the mutation rates for the X-chromosomal forms of hemophilia in female gonads lower than in the gonads of males?].
Humangenetik. 1965;1(3):253-63. doi: 10.1007/BF00395656.
7
RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes.散发性甲型血友病家庭中的限制性片段长度多态性分析。男性和女性配子中突变率的估计。
Hum Genet. 1987 Jul;76(3):253-6. doi: 10.1007/BF00283618.
8
Genetic characteristics of hemophilia A in Chile.智利甲型血友病的遗传特征。
Hum Hered. 1980;30(3):161-70. doi: 10.1159/000153122.
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.
10
GENETIC ORIGIN OF SOME SEX DIFFERENCES AMONG HUMAN BEINGS.人类某些性别差异的遗传起源
Pediatrics. 1965 May;35:798-812.

引用本文的文献

1
Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.散发性甲型血友病中的非倒位变异大多源自女性。
Int J Mol Sci. 2025 Jan 22;26(3):891. doi: 10.3390/ijms26030891.
2
Segregation analysis of hemophilia A and B.甲型和乙型血友病的分离分析。
Am J Hum Genet. 1979 Mar;31(2):226-7.
3
Answer to criticism of Morton and Lalouel.对莫顿和拉卢埃尔批评的回应。
Am J Hum Genet. 1977 May;29(3):307-11.
4
Segregation analysis of hemophilia A and B.甲型和乙型血友病的分离分析。
Am J Hum Genet. 1985 Jul;37(4):680-99.
5
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.
6
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.
7
Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection, and differential mutation rate in the two sexes.关于撒丁岛甲型血友病的研究，涉及复等位基因、携带者检测以及两性间差异突变率等问题。
Am J Hum Genet. 1984 Jan;36(1):44-71.
8
Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.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.
9
[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.
10
An estimation of the cumulative mutation rate for sex-linked lethals in man which produce fetal deaths.对导致胎儿死亡的人类性连锁致死突变累积发生率的估计。
Am J Hum Genet. 1966 Mar;18(2):127-43.

本文引用的文献

1
INFLUENCE OF THE TYPE OF INSEMINATED FEMALE ON THE LETHAL FREQUENCY IN THE X CHROMOSOME FROM THE MALE.授精雌体类型对雄性X染色体致死频率的影响
Proc Natl Acad Sci U S A. 1957 Jan 15;43(1):175-83. doi: 10.1073/pnas.43.1.175.
2
The female carrier of haemophilia. A clinical and laboratory study.血友病女性携带者。一项临床与实验室研究。
Lancet. 1951 Mar 3;1(6653):487-90. doi: 10.1016/s0140-6736(51)91970-8.
3
Formal genetics of muscular dystrophy.肌营养不良症的形式遗传学
Am J Hum Genet. 1959 Dec;11(4):360-79.
4
A pedigree of aniridia with a discussion of germinal mosaicism in man.一例无虹膜症的系谱及对人类生殖细胞镶嵌现象的讨论。
Am J Hum Genet. 1955 Mar;7(1):28-38.
5
Genetic tests under incomplete ascertainment.不完全确诊情况下的基因检测。
Am J Hum Genet. 1959 Mar;11(1):1-16.
6
Radiation-induced gene mutation in adult female and foetal male mice.成年雌性和胎仔雄性小鼠中的辐射诱导基因突变。
Br J Radiol. 1958 Aug;31(368):407-11. doi: 10.1259/0007-1285-31-368-407.
7
Estimates of the sex ratio of mutation rates in sex-linked conditions by the method of maximum likelihood.通过最大似然法对性连锁疾病中突变率的性别比进行估计。
Ann Hum Genet. 1958 May;22(3):244-9. doi: 10.1111/j.1469-1809.1958.tb01419.x.
8
The sex ratio of mutation rates of sex-linked recessive genes in man with particular reference to Duchenne type muscular dystrophy.人类性连锁隐性基因的突变率性别比，特别涉及杜兴氏型肌营养不良症。
Ann Hum Genet. 1958 May;22(3):235-43. doi: 10.1111/j.1469-1809.1958.tb01418.x.
9
Segregation analysis in human genetics.人类遗传学中的分离分析。
Science. 1958 Jan 10;127(3289):79-80. doi: 10.1126/science.127.3289.79.
10
Spontaneous-mutation rates at specific loci in Drosophila males and females.
Science. 1956 Aug 17;124(3216):314-5. doi: 10.1126/science.124.3216.314.