000 | 01392 a2200433 4500 | ||
---|---|---|---|
005 | 20250513202941.0 | ||
264 | 0 | _c20000504 | |
008 | 200005s 0 0 eng d | ||
022 | _a1059-7794 | ||
024 | 7 |
_a10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aHennermann, J B | |
245 | 0 | 0 |
_aPhenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. _h[electronic resource] |
260 |
_bHuman mutation _c2000 |
||
300 |
_a254-60 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 | _aAmino Acid Substitution |
650 | 0 | 4 |
_aDNA _xchemistry |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aFamily Health |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGermany |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aPhenylalanine _xblood |
650 | 0 | 4 |
_aPhenylketonurias _xblood |
650 | 0 | 4 | _aPoint Mutation |
650 | 0 | 4 | _aSequence Deletion |
700 | 1 | _aVetter, B | |
700 | 1 | _aWolf, C | |
700 | 1 | _aWindt, E | |
700 | 1 | _aBührdel, P | |
700 | 1 | _aSeidel, J | |
700 | 1 | _aMönch, E | |
700 | 1 | _aKulozik, A E | |
773 | 0 |
_tHuman mutation _gvol. 15 _gno. 3 _gp. 254-60 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W _zAvailable from publisher's website |
999 |
_c10634232 _d10634232 |