TY  - GEN
AU  - Whyte,Michael P
AU  - Essmyer,Kevan
AU  - Geimer,Michael
AU  - Mumm,Steven
TI  - Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry
SN  - 0022-3476
PY  - 2006///0726
KW  - Black or African American
KW  - genetics
KW  - Alkaline Phosphatase
KW  - Arginine
KW  - Child, Preschool
KW  - Cysteine
KW  - Electrophoresis, Gel, Two-Dimensional
KW  - Homozygote
KW  - Humans
KW  - Hypophosphatasia
KW  - epidemiology
KW  - Infant, Newborn
KW  - Isoenzymes
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Prevalence
KW  - RNA Splice Sites
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1016/j.jpeds.2006.01.031
ER  -