TY  - GEN
AU  - Lin,Z
AU  - deMello,D E
AU  - Wallot,M
AU  - Floros,J
TI  - An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4
SN  - 1096-7192
PY  - 1998///1006
KW  - Base Sequence
KW  - Codon, Terminator
KW  - Exons
KW  - genetics
KW  - Female
KW  - Frameshift Mutation
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Phenotype
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Genetic
KW  - Proteolipids
KW  - Pulmonary Alveolar Proteinosis
KW  - congenital
KW  - Pulmonary Surfactants
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1006/mgme.1998.2702
ER  -