Clinical evaluation and molecular screening of a large consecutive series of albino patients

Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA...

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Veröffentlicht in:	Journal of human genetics 2017-02, Vol.62 (2), p.277-290
Hauptverfasser:	Mauri, Lucia, Manfredini, Emanuela, Del Longo, Alessandra, Veniani, Emanuela, Scarcello, Manuela, Terrana, Roberta, Radaelli, Adriano Egidio, Calò, Donata, Mingoia, Giuseppe, Rossetti, Antonella, Marsico, Giovanni, Mazza, Marco, Gesu, Giovanni Pietro, Cristina Patrosso, Maria, Penco, Silvana, Piozzi, Elena, Primignani, Paola
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Albinism Albinism, Oculocutaneous - diagnosis Albinism, Oculocutaneous - genetics Antigens, Neoplasm - genetics Antiporters - genetics Eye Proteins - genetics Genetic Testing Humans Male Melanin Melanins - biosynthesis Membrane Glycoproteins - genetics Membrane Proteins - genetics Membrane Transport Proteins - genetics Middle Aged Mutation Ocular albinism Oxidoreductases - genetics Patients Pigmentation
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