000 | 01515 a2200445 4500 | ||
---|---|---|---|
005 | 20250515021744.0 | ||
264 | 0 | _c20060616 | |
008 | 200606s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.20310 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aWarthen, D M | |
245 | 0 | 0 |
_aJagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. _h[electronic resource] |
260 |
_bHuman mutation _cMay 2006 |
||
300 |
_a436-43 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAlagille Syndrome _xdiagnosis |
650 | 0 | 4 |
_aCalcium-Binding Proteins _xgenetics |
650 | 0 | 4 | _aCohort Studies |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aGenetic Testing |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
650 | 0 | 4 | _aIntercellular Signaling Peptides and Proteins |
650 | 0 | 4 | _aJagged-1 Protein |
650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPolymorphism, Genetic |
650 | 0 | 4 | _aSerrate-Jagged Proteins |
700 | 1 | _aMoore, E C | |
700 | 1 | _aKamath, B M | |
700 | 1 | _aMorrissette, J J D | |
700 | 1 | _aSanchez-Lara, P A | |
700 | 1 | _aSanchez, P | |
700 | 1 | _aPiccoli, D A | |
700 | 1 | _aKrantz, I D | |
700 | 1 | _aSpinner, N B | |
773 | 0 |
_tHuman mutation _gvol. 27 _gno. 5 _gp. 436-43 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.20310 _zAvailable from publisher's website |
999 |
_c16182533 _d16182533 |