Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.

Article

Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.

Blood - 1 Dec 1995

Verlander P C, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach A D

Abstract excerpt

Fanconi anemia (FA) is a genetically and phenotypically heterogeneous autosomal recessive disorder defined by a cellular hypersensitivity to DNA cross-linking agents. One of the FA genes, FAC, has been cloned and the genomic structure of the coding region has been characterized. We have developed...

Topics

Base Sequence
DNA Mutational Analysis
DNA Primers
Fanconi Anemia
Female
Gene Frequency
Heterozygote
Humans
Jews
Male
Molecular Sequence Data
Mutation
Pregnancy
Prenatal Diagnosis

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