| 000 | 01562 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250513144445.0 | ||
| 264 | 0 | _c19980813 | |
| 008 | 199808s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/301931 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGreer, W L | |
| 245 | 0 | 0 |
_aThe Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJul 1998 |
||
| 300 |
_a52-4 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aCarrier Proteins |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 13 |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aGenetic Linkage _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntracellular Signaling Peptides and Proteins |
| 650 | 0 | 4 |
_aLysosomal Storage Diseases _xgenetics |
| 650 | 0 | 4 | _aMembrane Glycoproteins |
| 650 | 0 | 4 | _aNiemann-Pick C1 Protein |
| 650 | 0 | 4 |
_aNiemann-Pick Diseases _xclassification |
| 650 | 0 | 4 | _aNova Scotia |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 700 | 1 | _aRiddell, D C | |
| 700 | 1 | _aGillan, T L | |
| 700 | 1 | _aGirouard, G S | |
| 700 | 1 | _aSparrow, S M | |
| 700 | 1 | _aByers, D M | |
| 700 | 1 | _aDobson, M J | |
| 700 | 1 | _aNeumann, P E | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 63 _gno. 1 _gp. 52-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/301931 _zAvailable from publisher's website |
| 999 |
_c9600845 _d9600845 |
||