000 01966 a2200565 4500
005 20250513190303.0
264 0 _c19990820
008 199908s 0 0 eng d
022 _a1059-7794
024 7 _a10.1002/(SICI)1098-1004(1999)14:2<145::AID-HUMU6>3.0.CO;2-L
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMaillet, P
245 0 0 _aA premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon.
_h[electronic resource]
260 _bHuman mutation
_c1999
300 _a145-55 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAlternative Splicing
_xgenetics
650 0 4 _aCell Differentiation
_xgenetics
650 0 4 _aCodon, Nonsense
_xgenetics
650 0 4 _aCodon, Terminator
_xgenetics
650 0 4 _aCytoskeletal Proteins
650 0 4 _aDNA Mutational Analysis
650 0 4 _aElliptocytosis, Hereditary
_xgenetics
650 0 4 _aErythrocytes
_xmetabolism
650 0 4 _aExons
_xgenetics
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
_xgenetics
650 0 4 _aFrance
650 0 4 _aGene Expression Regulation
_xgenetics
650 0 4 _aGenetic Markers
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMembrane Proteins
_xdeficiency
650 0 4 _aNeuropeptides
650 0 4 _aPedigree
650 0 4 _aPolymorphism, Genetic
650 0 4 _aRNA Precursors
_xgenetics
650 0 4 _aReverse Transcriptase Polymerase Chain Reaction
650 0 4 _aSequence Deletion
650 0 4 _aTranscription, Genetic
700 1 _aDalla Venezia, N
700 1 _aLorenzo, F
700 1 _aMorinière, M
700 1 _aBozon, M
700 1 _aNoël, B
700 1 _aDelaunay, J
700 1 _aBaklouti, F
773 0 _tHuman mutation
_gvol. 14
_gno. 2
_gp. 145-55
856 4 0 _uhttps://doi.org/10.1002/(SICI)1098-1004(1999)14:2<145::AID-HUMU6>3.0.CO;2-L
_zAvailable from publisher's website
999 _c10382996
_d10382996