Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation

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Bibliographic Details
Published inThe European respiratory journal Vol. 24; no. 6; pp. 1072 - 1073
Main Authors Percopo, S, Cameron, H S, Nogee, L M, Pettinato, G, Montella, S, Santamaria, F
Format Journal Article
LanguageEnglish
Published England 01.12.2004
Subjects
Base Sequence
Biopsy, Needle
Blotting, Western
Fatal Outcome
Genetic Predisposition to Disease
Genetic Testing
Humans
Immunohistochemistry
Infant
Infant, Newborn
Lung Diseases, Interstitial - genetics
Lung Diseases, Interstitial - pathology
Male
Molecular Sequence Data
Mutation, Missense
Polymerase Chain Reaction
Prognosis
Protein C - genetics
Sensitivity and Specificity
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More Information
ISSN:0903-1936
1399-3003
DOI:10.1183/09031936.04.00092304