Genetic heterogeneity in Pakistani microcephaly families

Autor: M Sajid Hussain, Eva Janzen, Peter Nürnberg, Angelika A. Noegel, Shahid Mahmood Baig, Hans Eiberg, Iram Anjum, M Reza Toliat, Muhammad Farooq, S Marriam Bakhtiar, Klaus W. Kjaer, Lars Hansen, Niels Tommerup

Publikováno v: Clinical Genetics. 83:446-451

Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further a

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https://doi.org/10.1111/j.1399-0004.2012.01932.x

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Compound heterozygous ASPM mutations in Pakistani MCPH families.

Autor: Muhammad F; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan., Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2009 May; Vol. 149A (5), pp. 926-30.