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of 5
pro vyhledávání: '"T J, van de Pol"'
Autor:
J A, van den Hurk, M, Schwartz, H, van Bokhoven, T J, van de Pol, L, Bogerd, A J, Pinckers, E M, Bleeker-Wagemakers, I H, Pawlowitzki, K, Rüther, H H, Ropers, F P, Cremers
Publikováno v:
Human mutation. 9(2)
Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5325f095f1f08a480e1143a1f48929c7
https://pubmed.ncbi.nlm.nih.gov/9067750
https://pubmed.ncbi.nlm.nih.gov/9067750
Publikováno v:
Molecular Genetics & Genomic Medicine. May2016, Vol. 4 Issue 3, p344-358. 15p.
Publikováno v:
Molecular Biology & Evolution; 2000, Vol. 17 Issue 8, p1175-1184, 10p
This book is the definitive guide to cutting-edge research in genetic retinal diseases. This compilation brings together the collective wisdom of leading experts in the field, offering a comprehensive and up-to-date resource that is as enlightening a
