Compound heterozygous mutation in PRF1 gene in a Patient with familial hemophagocytic lymphohistiocytosis-2.

Autor: Deilamani, Faravareh Khordadpoor¹ faravarkhordadpoor@yahoo.com

Publikováno v: Journal of Human Genetics & Genomics. Dec2021, Vol. 5 Issue 2, p1-3. 3p.

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations

Autor: Khordadpoor-Deilamani, Faravareh, Akbari, Mohammad Taghi, Karimipoor, Morteza, Javadi, Gholamreza

Publikováno v: Molecular Vision

Purpose Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased vis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9b52374e0527cd436fbb9480a2511b9b
http://europepmc.org/articles/PMC4499471

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Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes.

Autor: Khordadpoor Deilamani F; Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran., Akbari MT; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Jalal Al-Ahmad Express Way, Nasr Bridge, P.O.Box: 14115-331, Tehran, Iran. mtakbari@modares.ac.ir.; Tehran Medical Genetics Laboratory, No. 251, Taleghani Street, Tehran, Iran. mtakbari@modares.ac.ir.

Publikováno v: International journal of legal medicine [Int J Legal Med] 2016 Nov; Vol. 130 (6), pp. 1485-1486. Date of Electronic Publication: 2016 Mar 01.