An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4. [electronic resource]
Producer: 19981006Description: 25-35 p. digitalISSN:- 1096-7192
- Base Sequence
- Codon, Terminator
- Exons -- genetics
- Female
- Frameshift Mutation
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Proteolipids -- genetics
- Pulmonary Alveolar Proteinosis -- congenital
- Pulmonary Surfactants -- genetics
- Sequence Analysis, DNA
- Sequence Deletion
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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