| 000 | 01906 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250514220112.0 | ||
| 264 | 0 | _c20060516 | |
| 008 | 200605s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9321 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aConley, Mary Ellen | |
| 245 | 0 | 0 |
_aTwo independent retrotransposon insertions at the same site within the coding region of BTK. _h[electronic resource] |
| 260 |
_bHuman mutation _cMar 2005 |
||
| 300 |
_a324-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAgammaglobulinaemia Tyrosine Kinase |
| 650 | 0 | 4 |
_aAgammaglobulinemia _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aChromosomes, Human, X _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aDisease Susceptibility |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aImmunoglobulins, Intravenous _xtherapeutic use |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aInfections _xetiology |
| 650 | 0 | 4 |
_aIntrons _xgenetics |
| 650 | 0 | 4 | _aLong Interspersed Nucleotide Elements |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aX-Linked Intellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutagenesis, Insertional |
| 650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
| 650 | 0 | 4 |
_aProtein-Tyrosine Kinases _xgenetics |
| 650 | 0 | 4 | _aRecurrence |
| 650 | 0 | 4 |
_aRetroelements _xgenetics |
| 700 | 1 | _aPartain, Julie D | |
| 700 | 1 | _aNorland, Shannon M | |
| 700 | 1 | _aShurtleff, Sheila A | |
| 700 | 1 | _aKazazian, Haig H | |
| 773 | 0 |
_tHuman mutation _gvol. 25 _gno. 3 _gp. 324-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9321 _zAvailable from publisher's website |
| 999 |
_c15388148 _d15388148 |
||