CYSTIC-FIBROSIS .2. NEW DEVELOPMENTS IN CYSTIC-FIBROSIS - IMPLICATIONS FOR CARRIER DETECTION AND GENETIC-COUNSELING
被引:0
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作者:
DENTER, M
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机构:
UNIV WITWATERSRAND,JOHANNESBURG 2001,SOUTH AFRICAUNIV WITWATERSRAND,JOHANNESBURG 2001,SOUTH AFRICA
DENTER, M
[1
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论文数: 引用数:
h-index:
机构:
RAMSAY, M
[1
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JENKINS, T
论文数: 0引用数: 0
h-index: 0
机构:
UNIV WITWATERSRAND,JOHANNESBURG 2001,SOUTH AFRICAUNIV WITWATERSRAND,JOHANNESBURG 2001,SOUTH AFRICA
JENKINS, T
[1
]
机构:
[1] UNIV WITWATERSRAND,JOHANNESBURG 2001,SOUTH AFRICA
来源:
SOUTH AFRICAN MEDICAL JOURNAL
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1992年
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82卷
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01期
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D O I:
暂无
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
Cystic fibrosis (CF) is an autosomal recessive disorder found predominantly in people of European origin. Prenatal diagnosis for this disorder is now possible using the polymerase chain reaction technique to detect the most common CF-causing mutation, DELTA-F508. Case studies of prenatal diagnosis and carrier detection are presented and some of the genetic counselling issues related to these investigations are discussed.