Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.
Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance 90502.
P H
PH
Yen
G B
GB
Ferrero
A C
AC
Chinault
T
T
Mohandas
A
A
Ballabio
D001192:Arylsulfatases / Q000172:deficiency* / Q000235:genetics*; D001483:Base Sequence; D018244:Chromosomes, Artificial, Yeast; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000201:enzymology / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D043266:Steryl-Sulfatase; D014960:X Chromosome
D017931:DNA Primers; D005819:Genetic Markers; D001192:Arylsulfatases; D043266:Steryl-Sulfatase