Clinical and Molecular Characterization of Fumarate Hydratase (FH) germline carriers in Omani families.

被引:0
|
作者
Alsaegh, Abeer [1 ]
Abdulrahim, Reem [1 ]
Van Wyk, Chantel [2 ]
Crous, Ilse [2 ]
Al Kiyumi, Sara [2 ]
Al Balushi, Amira [2 ]
Al Malki, Suad [2 ]
Al Muhairi, Bushra [2 ]
机构
[1] Sultan Qaboos Comprehens Canc Care & Res Ctr, Genom, Seeb, Oman
[2] Sultan Qaboos Comprehens Canc Care & Res Ctr, Seeb, Oman
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P01.106.A
引用
收藏
页码:1268 / 1268
页数:1
相关论文
共 50 条
  • [41] Machado-Joseph disease: Molecular and clinical characterization in nine Chinese families
    Soong, BW
    Cherng, CH
    NEUROLOGY, 1996, 46 (02) : 2099 - 2099
  • [42] Molecular and clinical characterization of two independent Chinese families with protein C deficiency
    Wen, Mengzhen
    Lu, Yifan
    Xie, Haixiao
    Qin, Langyi
    Ye, Longying
    Zhang, Ke
    Wang, Mingshan
    Yang, Lihong
    ANNALS OF HEMATOLOGY, 2025, 104 (01) : 145 - 154
  • [43] Clinical and molecular characterization of four patients with Robinow syndrome from different families
    Rai, Archana
    Patil, Siddaramappa J.
    Srivastava, Priyanka
    Gaurishankar, Kalpana
    Phadke, Shubha R.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (04) : 1105 - 1112
  • [44] Female FMR1 full-mutation carriers: clinical and molecular characterization
    Tkachenko, Nataliya
    Soares, Gabriela
    Soares, Ana Rita
    Soares, Celia Azevedo
    Goncalves, Ana Rita
    Maia, Nuno
    Marques, Isabel
    Jorge, Paula
    Santos, Rosario
    Fortuna, Ana Maria
    MEDICINE, 2019, 98 (26)
  • [45] Clinical, Biochemical and Molecular Characterization of Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency
    Devi, Akella Radha Rama
    NEUROLOGY INDIA, 2025, 73 (01) : 145 - 148
  • [46] MOLECULAR CHARACTERIZATION OF 65 PORTUGUESE FAMILIES WITH CLINICAL DIAGNOSIS OF COLLAGEN TYPE IV GLOMERULOPATHIES
    Sa, Maria J. N.
    Alves, Susana
    Storey, Helen
    Flinter, Frances
    Willems, Patrick J.
    Carvalho, Filipa
    Oliveira, Joao
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2013, 28 : 313 - 313
  • [47] Characterization of the bladder exstrophy-epispadias complex: analysis of 232 families clinical and molecular
    Boyadjiev, SA
    Dodson, JL
    Radford, CL
    Ashrafi, GH
    Beaty, TH
    Mathews, RI
    Broman, KW
    Gearhart, JP
    BJU INTERNATIONAL, 2004, 94 (09) : 1337 - 1343
  • [48] Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy
    Tayyaba Ishaq
    Petra Loid
    Hafiza Abida Ishaq
    Go Hun Seo
    Outi Mäkitie
    Sadaf Naz
    BMC Musculoskeletal Disorders, 24
  • [49] Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan
    Li, SSL
    Tseng, HM
    Yang, TP
    Liu, CH
    Teng, SJ
    Huang, HW
    Chen, LM
    Kao, HW
    Chen, JH
    Tseng, JN
    Chen, A
    Hou, MF
    Huang, TJ
    Chang, HT
    Mok, KT
    Tsai, JH
    HUMAN GENETICS, 1999, 104 (03) : 201 - 204
  • [50] Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy
    Ishaq, Tayyaba
    Loid, Petra
    Ishaq, Hafiza Abida
    Seo, Go Hun
    Makitie, Outi
    Naz, Sadaf
    BMC MUSCULOSKELETAL DISORDERS, 2023, 24 (01)