Heterozygous missense protein S mutation in a young boy with incomplete tetraplegia.
Mauz-Koerholz
C
C
Müller
T
T
Kunze
C
C
Schneppenheim
R
R
Bernstaedt
M
M
Koerholz
D
D
D002648:Child; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics*; D017293:Protein S / Q000235:genetics*; D018455:Protein S Deficiency / Q000175:diagnosis / Q000235:genetics*; D011782:Quadriplegia / Q000175:diagnosis / Q000235:genetics*; D013116:Spinal Cord / Q000098:blood supply*; D013923:Thromboembolism / Q000175:diagnosis / Q000235:genetics*
D017293:Protein S