An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: Evidence for a mutation hotspot in exon 4

Molecular Genetics and Metabolism

Volumn 64, Issue 1, 1998, Pages 25-35

  Lin, Zhenwu ^a   DeMello, Daphne E ^b   Wallot, Michael ^c   Floros, Joanna ^a  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b SAINT LOUIS UNIVERSITY   (United States)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

CAP; Hotspot; Mutation; Pulmonary surfactant; SP B

Indexed keywords

LUNG SURFACTANT;

ARTICLE; CASE REPORT; EXON; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN TISSUE; LUNG ALVEOLUS PROTEINOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESPIRATORY DISTRESS SYNDROME;

EID: 0032071218     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2702     Document Type: Article

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