| 000 | 02527 a2200829 4500 | ||
|---|---|---|---|
| 005 | 20250513220605.0 | ||
| 264 | 0 | _c20001030 | |
| 008 | 200010s 0 0 eng d | ||
| 022 | _a1061-4036 | ||
| 024 | 7 |
_a10.1038/79063 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSeri, M | |
| 245 | 0 | 0 |
_aMutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. _h[electronic resource] |
| 260 |
_bNature genetics _cSep 2000 |
||
| 300 |
_a103-5 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aBlood Platelet Disorders _xgenetics |
| 650 | 0 | 4 |
_aCataract _xgenetics |
| 650 | 0 | 4 | _aChickens |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 22 |
| 650 | 0 | 4 | _aCrystallography, X-Ray |
| 650 | 0 | 4 |
_aCytoplasm _xmetabolism |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeukocytes _xpathology |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Motor Proteins |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMuscle, Smooth _xmetabolism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aMyosin Heavy Chains _xchemistry |
| 650 | 0 | 4 |
_aMyosins _xchemistry |
| 650 | 0 | 4 |
_aNephritis _xgenetics |
| 650 | 0 | 4 |
_aNeutrophils _xpathology |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 | _aProtein Structure, Tertiary |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aThrombocytopenia _xgenetics |
| 700 | 1 | _aCusano, R | |
| 700 | 1 | _aGangarossa, S | |
| 700 | 1 | _aCaridi, G | |
| 700 | 1 | _aBordo, D | |
| 700 | 1 | _aLo Nigro, C | |
| 700 | 1 | _aGhiggeri, G M | |
| 700 | 1 | _aRavazzolo, R | |
| 700 | 1 | _aSavino, M | |
| 700 | 1 | _aDel Vecchio, M | |
| 700 | 1 | _ad'Apolito, M | |
| 700 | 1 | _aIolascon, A | |
| 700 | 1 | _aZelante, L L | |
| 700 | 1 | _aSavoia, A | |
| 700 | 1 | _aBalduini, C L | |
| 700 | 1 | _aNoris, P | |
| 700 | 1 | _aMagrini, U | |
| 700 | 1 | _aBelletti, S | |
| 700 | 1 | _aHeath, K E | |
| 700 | 1 | _aBabcock, M | |
| 700 | 1 | _aGlucksman, M J | |
| 700 | 1 | _aAliprandis, E | |
| 700 | 1 | _aBizzaro, N | |
| 700 | 1 | _aDesnick, R J | |
| 700 | 1 | _aMartignetti, J A | |
| 773 | 0 |
_tNature genetics _gvol. 26 _gno. 1 _gp. 103-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/79063 _zAvailable from publisher's website |
| 999 |
_c10920695 _d10920695 |
||