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Academic Journal

Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.

Subjects: Exons* ; Mutation*; Anemia, Dyserythropoietic, Congenital/Anemia, Dyserythropoietic, Congenital/Anemia, Dyserythropoietic, Congenital/*genetics

  • Source: Hematology (Amsterdam, Netherlands) [Hematology] 2015 Mar; Vol. 20 (2), pp. 104-7. Date of Electronic Publication: 2014 May 06.Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Editorial & Opinion

Variations in exon-2 of SBDS gene and its association with aplastic anemia.

  • Authors : Jain D; Nanobiotechnology, Bioinformatics, & Genomics Lab, Amity Institute of Biotechnology, Amity University, Noida, UP, India; Molecular Genetics Lab, Medanta-The Medicity, Gurgaon, India. .

Subjects: Exons* ; Polymorphism, Single Nucleotide*; Anemia, Aplastic/Anemia, Aplastic/Anemia, Aplastic/*genetics

  • Source: International journal of laboratory hematology [Int J Lab Hematol] 2014 Dec; Vol. 36 (6), pp. e88-90. Date of Electronic Publication: 2014 Mar 17.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis.

  • Authors : Sarkar T; Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Uttar Pradesh, Varanasi, 221005, India.; Mouse Cancer Genetics Program, Center for Cancer Research, NCI-NIH, Fort Detrick, Frederick, MD, USA.

Subjects: Anodontia*/Anodontia*/Anodontia*/genetics; Humans ; Mutation

  • Source: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2023 Jan; Vol. 298 (1), pp. 183-199. Date of Electronic Publication: 2022 Nov 14.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification of the novel HLA allele, HLA-DRB1*14:245, in an individual from Northern India.

  • Authors : Parsaniya BS; Advanced Centre for Treatment, Research and Education in Cancer, Tata Memorial Centre, Navi Mumbai, India.; Pinto AS

Subjects: High-Throughput Nucleotide Sequencing*; Humans ; HLA-DRB1 Chains/HLA-DRB1 Chains/HLA-DRB1 Chains/genetics

  • Source: HLA [HLA] 2022 Dec; Vol. 100 (6), pp. 653-654. Date of Electronic Publication: 2022 Sep 06.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

KIT proto-oncogene exon 8 deletions at codon 419 are highly frequent in acute myeloid leukaemia with inv(16) in Indian population.

  • Authors : Hussain SR; Department of Biotechnology, Era's Lucknow Medical College and Hospital, Lucknow, Uttar Pradesh, India. ; Naqvi H

Subjects: Codon* ; Exons* ; Sequence Deletion*

  • Source: Molecular biotechnology [Mol Biotechnol] 2013 Jun; Vol. 54 (2), pp. 461-8.Publisher: Springer Country of Publication: United States NLM ID: 9423533 Publication Model: Print Cited Medium: Internet ISSN: 1559-0305

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Editorial & Opinion

Association of catalase T/C exon 9 and glutathione peroxidase codon 200 polymorphisms in relation to their activities and oxidative stress with vitiligo susceptibility in Gujarat population.

Subjects: Exons* ; Genetic Predisposition to Disease* ; Polymorphism, Genetic*

  • Source: Pigment cell research [Pigment Cell Res] 2007 Oct; Vol. 20 (5), pp. 405-7.Publisher: Munksgaard International Publishers Country of Publication: Denmark NLM ID: 8800247 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

Cytogenetic and molecular analysis of the Y chromosome: absence of a significant relationship between CAG repeat length in exon 1 of the androgen receptor gene and infertility in Indian men.

  • Authors : Dhillon VS; Cytogenetics Laboratory, Department of Biosciences, Faculty of Natural Sciences, Jamia Millia Islamia, New Delhi, India. ; Husain SA

Subjects: Exons* ; Trinucleotide Repeats*; Chromosomes, Human, Y/Chromosomes, Human, Y/Chromosomes, Human, Y/*genetics

  • Source: International journal of andrology [Int J Androl] 2003 Oct; Vol. 26 (5), pp. 286-95.Publisher: Blackwell Country of Publication: England NLM ID: 8000141 Publication Model: Print Cited Medium: Print ISSN: 0105-6263 (Print)

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