Article
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 - 1 May 1998
Lin Z, deMello D E, Wallot M, Floros J
Abstract excerpt
Mutations and polymorphisms within the human SP-B locus have been linked to fatal congenital alveolar proteinosis (CAP) and associated with respiratory distress syndrome (RDS), respectively. In the present study we used PCR and direct sequence analysis of the SP-B gene of three individuals from a...
Topics
- Base Sequence
- Codon, Terminator
- Exons
- Female
- Frameshift Mutation
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Proteolipids
- Pulmonary Alveolar Proteinosis