A novel heterozygous frameshift c.277del p.Thr93Leufs21 mutation in SERPINC1 associated with type 1 antithrombin deficiency

被引：0
|
作者：
Kumar, Riten [1 ,2 ,4 ]
Duzan, Juliann [1 ]
Drake, Emily [1 ]
Dawson, Jennifer [3 ]
机构：
[1] Dana Farber Boston Childrens Canc & Blood Disorder, Boston, MA USA
[2] Harvard Med Sch, Dept Pediat, Boston, MA USA
[3] Cleveland Clin, Lerner Res Inst, Genom Med, Cleveland, OH USA
[4] Dana Farber Boston Childrens Canc & Blood Disorder, 300 Longwood Ave, Boston, MA 02115 USA
来源：
PEDIATRIC BLOOD & CANCER | 2024年 / 71卷 / 06期
关键词：
CHILDREN; THROMBOPHILIA; PREVALENCE; IMPACT; SET;
D O I：
10.1002/pbc.30986
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
引用
收藏
页数：3
相关论文
共 45 条
  • [41] Autosomal Dominant Growth Hormone Deficiency due to a Novel c.178G>A Mutation in the GH1 Gene Causing Instability of the Mutant GH Protein (p.Ala34Thr)
    Miller, Bradley
    Tan, Jimmy
    Parween, Shaheena
    Eble, Andree
    Ternand, Christine
    Gregory, Louise
    Dattani, Mehul
    Pandey, Amit
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 380 - 380
  • [42] A novel heterozygous TPM2 gene mutation (c.456G>C; p.Lys152Asn) in an Iranian family affected by distal arthrogryposis type 1: a case report
    Neissi, Mostafa
    Sheikh-Hosseini, Motahareh
    Mohammadi-Asl, Javad
    Al-Badran, Adnan Issa
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2022, 23 (01)
  • [43] A novel NFkB1 (nuclear factor kappa B1) mutation (c.A2415G; p.Q805Q) associated with pyoderma gangrenosumand common variable immune deficiency
    Thompson, Alison
    Brooks, Joel
    Freudzon, Marianna
    Ramachandran, Sarika
    Dreyfus, David H.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 339 - 339
  • [44] BASAL CELL NEVUS (GORLIN) SYNDROME WITH A NOVEL HETEROZYGOUS DELETION FRAMESHIFT MUTATION (C.959DELC, P.VAL322 PHE FSX2) IN THE PTCH1 GENE ASSOCIATED WITH EPIRETINAL MEMBRANE, ODONTOGENIC KERATOCYSTS AND WITHOUT SKIN LESIONS AND FALX CEREBRI CALCIFICATION
    Akaltun, A.
    Eroz, R.
    Dogan, M.
    Bolu, S.
    Onder, H. I.
    Onbas, O.
    Kocabay, K.
    GENETIC COUNSELING, 2016, 27 (02): : 259 - 262
  • [45] Type XV osteogenesis imperfecta: A novel mutation in the WNT1 gene, c.620G >A (p.R207H), is associated with an inner ear deformity
    Zhu, Jicai
    Liu, Kai
    He, Shan
    Yang, Zihao
    Song, Jiaying
    Ju, Yan
    Xiong, Caiyun
    Zhang, Guomei
    Yang, Wen
    Tang, Chunhui
    INTRACTABLE & RARE DISEASES RESEARCH, 2023, 12 (01) : 58 - 61
12345