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Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India.

Autor: Vellarikkal SK; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi, India., Patowary A; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology , Delhi, India., Singh M; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi, India., Kumari R; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi, India., Faruq M; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi, India., Master DC; Department of Anatomy, Government Medical College , Baroda, India., Sivasubbu S; Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi, India., Scaria V; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi, India; GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India.

Publikováno v: Human genome variation [Hum Genome Var] 2014 Sep 04; Vol. 1, pp. 14007. Date of Electronic Publication: 2014 Sep 04 (Print Publication: 2014).

Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study.

Autor: Mohanty D; National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Mumbai, 400 012, India, mohantydipika09@gmail.com., Colah RB, Gorakshakar AC, Patel RZ, Master DC, Mahanta J, Sharma SK, Chaudhari U, Ghosh M, Das S, Britt RP, Singh S, Ross C, Jagannathan L, Kaul R, Shukla DK, Muthuswamy V

Publikováno v: Journal of community genetics [J Community Genet] 2013 Jan; Vol. 4 (1), pp. 33-42. Date of Electronic Publication: 2012 Oct 21.

Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34.

Autor: Radhakrishna U; Green Cross Blood Bank and Genetic Research Centre, Paldi, India. uppala@medecine.unige.ch, Ratnamala U, Gaines M, Beiraghi S, Hutchings D, Golla J, Husain SA, Gambhir PS, Sheth JJ, Sheth FJ, Chetan GK, Naveed M, Solanki JV, Patel UC, Master DC, Memon R, Antonarakis GS, Antonarakis SE, Nath SK

Publikováno v: American journal of human genetics [Am J Hum Genet] 2006 Sep; Vol. 79 (3), pp. 580-5. Date of Electronic Publication: 2006 Jul 21.