Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family-Reference-Cited by-同舟云学术

Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family

Published:2020-02-12 Issue:3 Volume:19 Page:241-246
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Viakhireva I.,Musatova E.,Bessonova L.,Shcherbatyuk Y.,Korobkov S.,Zhikriveckaya S.,Sofronova Ya.,Mironova I.,Khmelkova D.,Konovalov F.,Baranova A.,Pomerantseva E.,Skoblov M.

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics(clinical),Oncology,Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10689-020-00165-6.pdf

Reference13 articles.

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2. Rosendorff J, Bernstein R (1988) Fanconi's anemia–chromosome breakage studies in homozygotes and heterozygotes. Cancer Genet Cytogenet 33(2):175–183

3. Gille JJ et al (2012) Diagnosis of Fanconi anemia: mutation analysis by multiplex ligation-dependent probe amplification and PCR-based sanger sequencing. Anemia 2012:603253

4. Ece Solmaz A et al (2015) Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. Eur J Med Genet 58(12):689–694

5. Ghemlas I et al (2015) Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. J Med Genet 52(9):575–584

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2. Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group;Biomedical Reports;2024-02-26