FAMILIAL NEUROGENIC DIABETES-INSIPIDUS IN SOME, BUT NOT IN ALL CAUCASIAN KINDREDS IS LINKED TO A MUTATION IN EXON 2 OF THE VASOPRESSIN-NEUROPHYSIN GENE

被引:0
|
作者
KOVACS, L
MCLEOD, JF
RITTIG, S
GASKILL, MB
PHILLIPS, JA
机构
[1] NORTHWESTERN UNIV,SCH MED,DEPT MED,CHICAGO,IL 60611
[2] VANDERBILT UNIV,DEPT PEDIAT,NASHVILLE,TN 37240
来源
CLINICAL RESEARCH | 1992年 / 40卷 / 02期
关键词
D O I
暂无
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
引用
下载
收藏
页码:A260 / A260
页数:1
相关论文
共 50 条
  • [41] A MOLECULAR DEFECT IN THE VASOPRESSIN V2-RECEPTOR GENE CAUSING NEPHROGENIC DIABETES-INSIPIDUS
    HOLTZMAN, EJ
    HARRIS, HW
    KOLAKOWSKI, LF
    GUAYWOODFORD, LM
    BOTELHO, B
    AUSIELLO, DA
    NEW ENGLAND JOURNAL OF MEDICINE, 1993, 328 (21): : 1534 - 1537
  • [42] A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene
    Ueta, Y
    Taniguchi, S
    Yoshida, A
    Murakami, I
    Mitani, Y
    Hisatome, I
    Manabe, I
    Sato, R
    Tsuboi, M
    Ohtahara, A
    Nanba, E
    Shigemasa, C
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (05): : 1787 - 1790
  • [43] CLINICAL PHENOTYPE OF NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES HETEROZYGOUS FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION
    VANLIEBURG, AF
    VERDIJK, MAJ
    SCHOUTE, F
    LIGTENBERG, MJL
    VANOOST, BA
    WALDHAUSER, F
    DOBNER, M
    MONNENS, LAH
    KNOERS, NVAM
    HUMAN GENETICS, 1995, 96 (01) : 70 - 78
  • [44] CLINICAL PHENOTYPE OF NEPHROGENIC DIABETES-INSIPIDUS IN FEMALES HETEROZYGOUS FOR A VASOPRESSIN TYPE-2 RECEPTOR MUTATION
    VANLIEBURG, AF
    VERDIJK, MAJ
    SCHOUTE, F
    LIGTENBERG, MJL
    VANOOST, BA
    WALDHAUSER, F
    DOBNER, M
    MONNENS, LAH
    KNOERS, VVAM
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1995, 6 (03): : 728 - 728
  • [45] MOLECULAR DEFECT IN THE VASOPRESSIN V2 RECEPTOR GENE CAUSING NEPHROGENIC DIABETES-INSIPIDUS
    KOLAKOWSKI, LF
    HOLTZMAN, EJ
    AUSIELLO, DA
    FASEB JOURNAL, 1993, 7 (07): : A1114 - A1114
  • [46] Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus
    Abbes, AP
    Bruggeman, B
    van den Akker, ELT
    de Groot, MR
    Franken, AAM
    Drexhage, VR
    Engel, H
    CLINICAL CHEMISTRY, 2000, 46 (10) : 1699 - 1702
  • [47] A NEWLY RECOGNIZED VARIANT OF FAMILIAL NEPHROGENIC DIABETES-INSIPIDUS DISTINGUISHED BY PARTIAL RESISTANCE TO VASOPRESSIN (TYPE-2)
    ROBERTSON, GL
    SCHEIDLER, JA
    CLINICAL RESEARCH, 1981, 29 (02): : A555 - A555
  • [48] Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds - (Genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus)
    Siggaard, C
    Christensen, JH
    Corydon, TJ
    Rittig, S
    Robertson, GL
    Gregersen, N
    Bolund, L
    Pedersen, EB
    CLINICAL ENDOCRINOLOGY, 2005, 63 (02) : 207 - 216
  • [49] GLU-47, WHICH FORMS A SALT BRIDGE BETWEEN NEUROPHYSIN-II AND ARGININE-VASOPRESSIN, IS DELETED IN PATIENTS WITH FAMILIAL CENTRAL DIABETES-INSIPIDUS
    YUASA, H
    ITO, M
    NAGASAKI, H
    OISO, Y
    MIYAMOTO, S
    SASAKI, N
    SAITO, H
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 77 (03): : 600 - 604
  • [50] NICOTINE-STIMULATED ARGININE VASOPRESSIN, NEUROPHYSIN (NSN) AND URINE CYCLIC-AMP (CAMP) AFTER DDAVP TREATMENT FOR FAMILIAL DOMINANT DIABETES-INSIPIDUS (FDDI)
    BLACKETT, PR
    RAMADAN, T
    GHAVAMI, Z
    SEELY, JR
    SEIF, S
    ROBINSON, AG
    CLINICAL RESEARCH, 1979, 27 (02): : A248 - A248