Estimate of germinal mosaicism in Duchenne muscular dystrophy.
作者信息
Passos-Bueno M R, Lima M A, Zatz M
出版信息
J Med Genet. 1990 Nov;27(11):727-8. doi: 10.1136/jmg.27.11.727.
Abstract
摘要
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本文引用的文献
1
SERUM ENZYME STUDIES IN MUSCLE DISEASE. III. SERUM CREATINE KINASE ACTIVITY IN RELATIVES OF PATIENTS WITH THE DUCHENNE TYPE OF MUSCULAR DYSTROPHY.肌肉疾病的血清酶研究。III. 杜兴型肌营养不良症患者亲属的血清肌酸激酶活性
J Neurol Neurosurg Psychiatry. 1964 Jun;27(3):181-5. doi: 10.1136/jnnp.27.3.181.
2
Creatine phosphokinase in neuromuscular disease. Patients and families.神经肌肉疾病中的肌酸磷酸激酶。患者及家属。
Arch Neurol. 1967 May;16(5):529-35. doi: 10.1001/archneur.1967.00470230081011.
3
Biochemical and histopathological studies of the carrier state in Duchenne's muscular dystrophy.
Confin Neurol. 1968;30(5):289-300. doi: 10.1159/000103542.
4
Germinal mosaicism in Duchenne muscular dystrophy.
Hum Genet. 1988 Mar;78(3):282-4. doi: 10.1007/BF00291677.
5
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.一个未受影响的男性两次传递的肌营养不良基因的部分缺失。
Nature. 1987;329(6139):556-8. doi: 10.1038/329556a0.
6
Germline mosaicism and Duchenne muscular dystrophy mutations.种系嵌合现象与杜氏肌营养不良症突变
Nature. 1987;329(6139):554-6. doi: 10.1038/329554a0.
7
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.生殖系嵌合增加了“新的”杜氏肌营养不良症突变的复发风险。
J Med Genet. 1989 Sep;26(9):553-9. doi: 10.1136/jmg.26.9.553.
8
Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance.
Am J Med Genet. 1989 Mar;32(3):407-10. doi: 10.1002/ajmg.1320320328.
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10
Serum creatine phosphokinase and pyruvate kinase in neuromuscular disorders and Duchenne dystrophy carriers.神经肌肉疾病和杜氏肌营养不良症携带者中的血清肌酸磷酸激酶和丙酮酸激酶
Neurology. 1978 Oct;28(10):1047-50. doi: 10.1212/wnl.28.10.1047.
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