The molecular basis of hemophilia A in man

Stylianos E. Antonarakis; Haigh H. Kazazian

doi:10.1016/0168-9525(88)90156-4

The molecular basis of hemophilia A in man

Stylianos E. Antonarakis, Haigh H. Kazazian

School of Medicine

Research output: Contribution to journal › Review article › peer-review

Abstract

The study of mutations in the factor VIII gene that cause hemophilia A has provided new insights into the variety and nature of mutations in man. These new insights are the relative susceptibility of CpG dinucleotides to mutation and the observation of insertions of LINE repetitive elements via retrotransposition, Using DNA polymorphisms for indirect detection of defective factor VIII genes, accurate prenatal diagnosis and carrier detection can now be performed in most families with hemophilia A.

Original language	English (US)
Pages (from-to)	233-237
Number of pages	5
Journal	Trends in Genetics
Volume	4
Issue number	8
DOIs	https://doi.org/10.1016/0168-9525(88)90156-4
State	Published - Aug 1988

ASJC Scopus subject areas

Genetics

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abstract = "The study of mutations in the factor VIII gene that cause hemophilia A has provided new insights into the variety and nature of mutations in man. These new insights are the relative susceptibility of CpG dinucleotides to mutation and the observation of insertions of LINE repetitive elements via retrotransposition, Using DNA polymorphisms for indirect detection of defective factor VIII genes, accurate prenatal diagnosis and carrier detection can now be performed in most families with hemophilia A.",

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