000 01667 a2200457 4500
005 20250514052246.0
264 0 _c20030108
008 200301s 0 0 eng d
022 _a0022-202X
024 7 _a10.1046/j.1523-1747.2002.19526.x
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHamada, Takahiro
245 0 0 _aCommon mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.
_h[electronic resource]
260 _bThe Journal of investigative dermatology
_cNov 2002
300 _a1202-3 p.
_bdigital
500 _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aChild, Preschool
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDNA-Binding Proteins
650 0 4 _aEctodermal Dysplasia
_xgenetics
650 0 4 _aFemale
650 0 4 _aGenes, Tumor Suppressor
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aLimb Deformities, Congenital
_xgenetics
650 0 4 _aMale
650 0 4 _aMembrane Proteins
650 0 4 _aPhenotype
650 0 4 _aPhosphoproteins
_xgenetics
650 0 4 _aPoint Mutation
650 0 4 _aTrans-Activators
_xgenetics
650 0 4 _aTranscription Factors
650 0 4 _aTumor Suppressor Proteins
700 1 _aChan, Ien
700 1 _aWilloughby, Colin E
700 1 _aGoudie, David R
700 1 _aMcGrath, John A
773 0 _tThe Journal of investigative dermatology
_gvol. 119
_gno. 5
_gp. 1202-3
856 4 0 _uhttps://doi.org/10.1046/j.1523-1747.2002.19526.x
_zAvailable from publisher's website
999 _c12251685
_d12251685