TY  - GEN
AU  - de Paula,Flavia
AU  - Vieira,Natássia
AU  - Starling,Alessandra
AU  - Yamamoto,Lydia Uraco
AU  - Lima,Bruno
AU  - de Cássia Pavanello,Rita
AU  - Vainzof,Mariz
AU  - Nigro,Vincenzo
AU  - Zatz,Mayana
TI  - Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
SN  - 1018-4813
PY  - 2004///0819
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 19
KW  - DNA Primers
KW  - Female
KW  - Genetic Carrier Screening
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Pentosyltransferases
KW  - Proteins
KW  - genetics
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.ejhg.5201066
ER  -