| 000 | 01605 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250513150052.0 | ||
| 264 | 0 | _c19981006 | |
| 008 | 199810s 0 0 eng d | ||
| 022 | _a1096-7192 | ||
| 024 | 7 |
_a10.1006/mgme.1998.2702 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLin, Z | |
| 245 | 0 | 0 |
_aAn SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cMay 1998 |
||
| 300 |
_a25-35 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCodon, Terminator |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 650 | 0 | 4 |
_aProteolipids _xgenetics |
| 650 | 0 | 4 |
_aPulmonary Alveolar Proteinosis _xcongenital |
| 650 | 0 | 4 |
_aPulmonary Surfactants _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _adeMello, D E | |
| 700 | 1 | _aWallot, M | |
| 700 | 1 | _aFloros, J | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 64 _gno. 1 _gp. 25-35 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1006/mgme.1998.2702 _zAvailable from publisher's website |
| 999 |
_c9647968 _d9647968 |
||