Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation.
Percopo
S
S
Cameron
H S
HS
Nogee
L M
LM
Pettinato
G
G
Montella
S
S
Santamaria
F
F
D001483:Base Sequence; D001707:Biopsy, Needle; D015153:Blotting, Western; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D017563:Lung Diseases, Interstitial / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011379:Prognosis; D011486:Protein C / Q000235:genetics*; D012680:Sensitivity and Specificity
D011486:Protein C