Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels.

doi:10.1007/s004390050256

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Article

Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels.

Human genetics - 1 Nov 1996

Knöll A, Ketterling R P, Sommer S S

Abstract excerpt

Most estimates of germ-line mosaicism have been derived from families in which there has been transmission of a mutated allele to two or more children by an unaffected individual. Previously, analyses for somatic mosaicism detected five such individuals by PCR-based sequencing and haplotype analy...

Topics

Alleles
Female
Hemophilia B
Humans
Male
Mosaicism
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Restriction Mapping
Sensitivity and Specificity
Sequence Analysis, DNA
Spermatozoa

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