Familial Kallmann syndrome: A novel splice acceptor mutation in the KAL gene

被引:0
|
作者
O'Neill, MJ
Tridjaja, B
Smith, MJ
Bell, KM
Warne, GL
Sinclair, AH [1 ]
机构
[1] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Parkville, Vic 3052, Australia
[2] Univ Melbourne, Royal Childrens Hosp, Ctr Hormone Res, Parkville, Vic 3052, Australia
关键词
Kallmann syndrome; KAL gene; neuronal migration; mental illness;
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:340 / 342
页数:3
相关论文
共 50 条
  • [1] A novel mutation of the KAL1 gene in Kallmann syndrome
    Izumi, Y
    Tatsumi, K
    Okamoto, S
    Hosokawa, A
    Ueno, S
    Fukui, H
    Amino, N
    ENDOCRINE JOURNAL, 1999, 46 (05) : 651 - 658
  • [2] A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome
    Jansen, C
    Hendriks-Stegeman, BI
    Jansen, M
    HORMONE RESEARCH, 2000, 53 (04) : 207 - 212
  • [3] A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome
    Matsuo, T
    Okamoto, S
    Izumi, Y
    Hosokawa, A
    Takegawa, T
    Fukui, H
    Tun, Z
    Honda, K
    Matoba, R
    Tatsumi, K
    Amino, N
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2000, 143 (06) : 783 - 787
  • [4] A novel KAL1 mutation identified in Kallmann syndrome
    Vicky Heath
    Nature Clinical Practice Endocrinology & Metabolism, 2006, 2 (3): : 124 - 124
  • [5] A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome
    Arora, Sumeet
    Yeliosof, Olga
    Chin, Vivian L.
    ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2023, 2023 (02):
  • [6] A novel nonsense mutation of the KAL1 gene (p. Trp204*) in Kallmann syndrome
    El Husny, Antonette Souto
    Raiol-Moraes, Milene
    Fernandes-Caldato, Milena Coelho
    Ribeiro-dos-Santos, Andrea
    APPLICATION OF CLINICAL GENETICS, 2014, 7 : 177 - 182
  • [7] A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome
    Gu, WX
    Colquhoun-Kerr, JS
    Kopp, P
    Bode, HH
    Jameson, JL
    MOLECULAR GENETICS AND METABOLISM, 1998, 65 (01) : 59 - 61
  • [8] A Novel Nonsense Mutation of the KAL1 Gene (Trp204Stop) in Kallmann Syndrome.
    El-Husny, A. S.
    Moraes, M. R.
    Ribeiro-dos-Santos, A. K. C.
    Fernandes-Caldato, M. C.
    ENDOCRINE REVIEWS, 2010, 31 (03)
  • [9] A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome
    Maya-Nuñez, G
    Zenteno, JC
    Ulloa-Aguirre, A
    Kofman-Alfaro, S
    Mendez, JP
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (05): : 1650 - 1653
  • [10] Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome
    Söderlund, D
    Canto, P
    Méndez, JP
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (06): : 2589 - 2592