Exclusive paternal origin of new mutations in Apert syndrome.

doi:10.1038/ng0596-48

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Article

Exclusive paternal origin of new mutations in Apert syndrome.

Nature genetics - 1 May 1996

Moloney D M, Slaney S F, Oldridge M, Wall S A, Sahlin P, Stenman G, Wilkie A O

Abstract excerpt

Apert syndrome results from one or other of two specific nucleotide substitutions, both C-->G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. The frequency of new mutations, estimated as 1 per 65,000 live births, implies germline transversion rates at these two positions a...

Topics

Acrocephalosyndactylia
Adult
Base Sequence
Cytosine
DNA Mutational Analysis
DNA Primers
Fathers
Female
Gene Frequency
Genetic Variation
Genomic Imprinting
Genotype
Guanine
Haplotypes
Humans
Male
Maternal Age
Models, Genetic

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