Subtyping Analysis of Fanconi Anemia by Immunoblotting and Retroviral Gene Transfer
نویسندگان
چکیده
منابع مشابه
Functional correction of Fanconi anemia group A hematopoietic cells by retroviral gene transfer.
Fanconi anemia (FA) is an autosomal recessive genetic disorder characterized by a variety of physical anomalies, bone marrow failure, and an increased risk for malignancy. FA cells exhibit chromosomal instability and are hypersensitive to DNA cross-linking agents such as mitomycin C (MMC). FA is a clinically heterogeneous disorder and can be functionally divided into at least five different com...
متن کاملSubtyping of Fanconi anemia patients: implications for clinical management.
Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive bone marrow failure, congenital anomalies, and predisposition to cancer. At least 8 complementation groups for FA are known (A, B, C, D1, D2, E, F, G), and 7 FA genes have been cloned. FA cells are highly sensitive to the DNA crosslinking agents, mitomycin C (MMC) or diepoxybutane (DEB), thus providing the ba...
متن کاملFrequency of Hypothyroidism in Fanconi Anemia
Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...
متن کاملpragmatic transfer in compliment responses and chastisements by iranian learners of english
فرهنگ های گوناگون دریافت ها و تعبیر های مختلفی از تناسب و ادب دارند. بنابراین، ارتباط میان فرهنگی خطرات ذاتی خطای ارتباطی را نشان می دهد. این پژوهش به منظور تعیین وقوع انتقال منظورشناختی زبان در زبان بینابینی زبان آموزان ایرانی، اختلاف منظورشناختی زبان را بین فارسی و انگلیسی در کنش های کلامی پاسخ تحسین و انتقاد بررسی می کند.داده ها از میان 33 آمریکایی انگلیسی زبان، 85 زبان آموز ایرانی در سطوح م...
15 صفحه اولPhenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder defined by cellular hypersensitivity to DNA cross-linking agents; mutations in the gene defective in FA complementation group C, FAC, are responsible for the syndrome in a subset of patients. We have performed an analysis of the clinical effects of specific mutations in the FAC gene. Using the amplification refractor...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Medicine
سال: 1998
ISSN: 1076-1551,1528-3658
DOI: 10.1007/bf03401752