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

Lin, Z

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] - Molecular genetics and metabolism May 1998 - 25-35 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

1096-7192

10.1006/mgme.1998.2702 doi


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