000 01699 a2200517 4500
005 20250515041947.0
264 0 _c20070228
008 200702s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.20394
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSánchez-Sánchez, Francisco
245 0 0 _aAttenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.
_h[electronic resource]
260 _bHuman mutation
_cFeb 2007
300 _a159-67 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAlternative Splicing
650 0 4 _aAmino Acid Sequence
650 0 4 _aChild
650 0 4 _aCodon, Nonsense
650 0 4 _aDNA Mutational Analysis
650 0 4 _aExons
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aGenotype
650 0 4 _aGreen Fluorescent Proteins
_xanalysis
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aPenetrance
650 0 4 _aPeptide Chain Initiation, Translational
650 0 4 _aPhenotype
650 0 4 _aRNA, Messenger
_xmetabolism
650 0 4 _aRetinoblastoma
_xdiagnosis
650 0 4 _aRetinoblastoma Protein
_xanalysis
700 1 _aRamírez-Castillejo, Carmen
700 1 _aWeekes, Daniel B
700 1 _aBeneyto, Magdalena
700 1 _aPrieto, Félix
700 1 _aNájera, Carmen
700 1 _aMittnacht, Sibylle
773 0 _tHuman mutation
_gvol. 28
_gno. 2
_gp. 159-67
856 4 0 _uhttps://doi.org/10.1002/humu.20394
_zAvailable from publisher's website
999 _c16567598
_d16567598