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
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