Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

de Paula, Flavia

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. [electronic resource] - European journal of human genetics : EJHG Dec 2003 - 923-30 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1018-4813

10.1038/sj.ejhg.5201066 doi


Adolescent
Adult
Base Sequence
Child
Child, Preschool
Chromosomes, Human, Pair 19
DNA Primers
Female
Genetic Carrier Screening
Homozygote
Humans
Male
Mutation
Pedigree
Pentosyltransferases
Proteins--genetics