Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient

被引：0
|
作者：
Almoallem, Basamat
机构：
来源：
ACTA OPHTHALMOLOGICA | 2022年 / 100卷
关键词：
D O I：
10.1111/j.1755-3768.2022.0283
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页数：1
相关论文
共 50 条
  • [21] A novel mutation at the donor splice site of intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency
    Hayashi, Y
    Kamijo, T
    Yamamoto, M
    Ohmori, S
    Phillips, JA
    Ogawa, M
    Igarashi, Y
    Seo, H
    GROWTH HORMONE & IGF RESEARCH, 1999, 9 (06) : 434 - 437
  • [22] Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation
    Hegele, RA
    Miskie, BA
    CLINICAL GENETICS, 2002, 61 (02) : 101 - 103
  • [23] A novel splice site mutation in a Brazilian patient with hereditary antithrombin deficiency type I
    Arnaldi, LAT
    Polimeno, NC
    Arruda, VR
    Annichino-Bizzacchi, JM
    HUMAN HEREDITY, 1999, 49 (02) : 119 - 120
  • [24] PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
    Yang, Qi
    Hua, Rong
    Qian, Jiale
    Yi, Shang
    Shen, Fei
    Zhang, Qiang
    Li, Mengting
    Yi, Sheng
    Luo, Jingsi
    Fan, Xin
    FRONTIERS IN GENETICS, 2020, 11
  • [25] A Novel Splice Site Mutation in the PAX6 Gene in a Korean Family with Isolated Aniridia
    Chang, Mi Sun
    Han, Jong Chul
    Lee, Jieun
    Kwun, Younghee
    Huh, Rimm
    Ki, Chang-Seok
    Kee, Changwon
    Cho, Sung Yoon
    Jin, Dong-Kyu
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2015, 45 (01): : 90 - 93
  • [26] Novel POLG Splice Site Mutation and Optic Atrophy
    Milone, Margherita
    Wang, Jing
    Liewluck, Teerin
    Chen, Li-Chieh
    Leavitt, Jacqueline A.
    Wong, Lee-Jun
    ARCHIVES OF NEUROLOGY, 2011, 68 (06) : 806 - 811
  • [27] A novel aberrant splice site mutation in the APC gene
    Charames, GS
    Cheng, H
    Gilpin, CA
    Hunter, AGW
    Berk, T
    Bapat, B
    JOURNAL OF MEDICAL GENETICS, 2002, 39 (10) : 754 - 757
  • [28] Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia
    Toral, Marcus A.
    Velez, Gabriel
    Boudreault, Katherine
    Schaefer, Kellie A.
    Xu, Yu
    Saffra, Norman
    Bassuk, Alexander G.
    Tsang, Stephen H.
    Mahajan, Vinit B.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2017, 5 (03): : 202 - 209
  • [29] A novel splice site mutation in the WAS gene causes Wiskott-Aldrich syndrome in two siblings of a Saudi family
    Abu-Amero, KK
    Owaidah, TM
    Al Jefri, A
    Al-Ghonaium, A
    Fawaz, IM
    Al-Hamed, MH
    BLOOD COAGULATION & FIBRINOLYSIS, 2004, 15 (07) : 599 - 603
  • [30] A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
    Tanaka, A.
    Matsuo, Y.
    Shimomura, Y.
    Hide, M.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (09) : S194 - S194
12345