000 01636 a2200481 4500
005 20250513075248.0
264 0 _c19931105
008 199311s 0 0 eng d
022 _a0964-6906
024 7 _a10.1093/hmg/2.8.1201
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHoltzman, E J
245 0 0 _aA Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred.
_h[electronic resource]
260 _bHuman molecular genetics
_cAug 1993
300 _a1201-4 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
650 0 4 _aAmino Acid Sequence
650 0 4 _aBase Sequence
650 0 4 _aCloning, Molecular
650 0 4 _aDNA Primers
650 0 4 _aDeoxyribonucleases, Type II Site-Specific
650 0 4 _aDiabetes Insipidus
_xgenetics
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
650 0 4 _aGenetic Carrier Screening
650 0 4 _aHaplotypes
_xgenetics
650 0 4 _aHumans
650 0 4 _aKidney Diseases
_xgenetics
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aPedigree
650 0 4 _aPoint Mutation
650 0 4 _aPolymerase Chain Reaction
650 0 4 _aReceptors, Vasopressin
_xgenetics
650 0 4 _aRestriction Mapping
650 0 4 _aX Chromosome
700 1 _aKolakowski, L F
700 1 _aO'Brien, D
700 1 _aCrawford, J D
700 1 _aAusiello, D A
773 0 _tHuman molecular genetics
_gvol. 2
_gno. 8
_gp. 1201-4
856 4 0 _uhttps://doi.org/10.1093/hmg/2.8.1201
_zAvailable from publisher's website
999 _c8400775
_d8400775