000 01523 a2200433 4500
005 20250512024411.0
264 0 _c19890309
008 198903s 0 0 eng d
022 _a0021-9738
024 7 _a10.1172/JCI113914
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMorel, Y
245 0 0 _aRearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.
_h[electronic resource]
260 _bThe Journal of clinical investigation
_cFeb 1989
300 _a527-36 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 0 4 _aAdrenal Hyperplasia, Congenital
_xgenetics
650 0 4 _aAlleles
650 0 4 _aChromosome Deletion
650 0 4 _aCytochrome P-450 Enzyme System
_xgenetics
650 0 4 _aDNA Probes
650 0 4 _aFamily
650 0 4 _aHaploidy
650 0 4 _aHumans
650 0 4 _aMutation
650 0 4 _aNucleotide Mapping
650 0 4 _aPedigree
700 1 _aAndré, J
700 1 _aUring-Lambert, B
700 1 _aHauptmann, G
700 1 _aBétuel, H
700 1 _aTossi, M
700 1 _aForest, M G
700 1 _aDavid, M
700 1 _aBertrand, J
700 1 _aMiller, W L
773 0 _tThe Journal of clinical investigation
_gvol. 83
_gno. 2
_gp. 527-36
856 4 0 _uhttps://doi.org/10.1172/JCI113914
_zAvailable from publisher's website
999 _c2918894
_d2918894