Novel mutation of the calcium sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism

被引：3
作者：
de Andrade, Simone Caixeta [1 ]
Kohara, Suely Keiko
D'Souza-Li, Lilia
机构：
[1] Univ Estadual Campinas, Ctr Invest Paediat, Paediat Endocrinol Lab, Sao Paulo, Brazil
[2] Univ Estadual Campinas, Fac Med Sci, Dept Paediat, Sao Paulo, Brazil
[3] Univ Joinville, Fac Med, Joinville, SC, Brazil
来源：
CLINICAL ENDOCRINOLOGY | 2006年 / 65卷 / 06期
关键词：
D O I：
10.1111/j.1365-2265.2006.02640.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：826 / 827
页数：2
相关论文
共 6 条
  • [1] Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia
    D'Souza-Li, L
    Yang, B
    Canaff, L
    Bai, M
    Hanley, DA
    Bastepe, M
    Salisbury, SR
    Brown, EM
    Cole, DEC
    Hendy, GN
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (03) : 1309 - 1318
  • [2] KOZAK M, 1991, J BIOL CHEM, V266, P19867
  • [3] MARX S, 1981, MEDICINE, P397
  • [4] MUTATIONS IN THE HUMAN CA2+-SENSING RECEPTOR GENE CAUSE FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVERE HYPERPARATHYROIDISM
    POLLAK, MR
    BROWN, EM
    CHOU, YHW
    HEBERT, SC
    MARX, SJ
    STEINMANN, B
    LEVI, T
    SEIDMAN, CE
    SEIDMAN, JG
    [J]. CELL, 1993, 75 (07) : 1297 - 1303
  • [5] PRATT E, 1947, J PEDIATR, P388
  • [6] Assessing protein coding region integrity in cDNA sequencing projects
    Salamov, AA
    Nishikawa, T
    Swindells, MB
    [J]. BIOINFORMATICS, 1998, 14 (05) : 384 - 390
1