A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)
| ISSN: | 0923-1811 |
|---|---|
| DOI: | 10.1016/s0923-1811(01)00141-4 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed89d22c352425244f38d5d5c529089f https://doi.org/10.1016/s0923-1811(01)00141-4 |
| Rights: | CLOSED |
| Přírůstkové číslo: | edsair.doi.dedup.....ed89d22c352425244f38d5d5c529089f |
| Autor: | Yoko Kano, Eriko Nakamura, Muneo Tanita, Yoshinori Miyamura, Michihiro Kono, Yasushi Tomita, Miwako Dakeishi-Hara, Jun Matsunaga |
| Rok vydání: | 2002 |
| Předmět: |
Male
Heterozygote Tyrosinase Mutation Missense Dermatology Biology medicine.disease_cause Biochemistry Frameshift mutation Melanin medicine Humans Missense mutation Amino Acid Sequence Frameshift Mutation Molecular Biology Gene Mutation Base Sequence integumentary system Monophenol Monooxygenase Infant DNA medicine.disease Oculocutaneous albinism Molecular biology Pedigree Albinism Oculocutaneous Albinism Female sense organs |
| Zdroj: | Journal of Dermatological Science. 28:102-105 |
| ISSN: | 0923-1811 |
| DOI: | 10.1016/s0923-1811(01)00141-4 |
| Popis: | Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. In this paper, we report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA. |
| Databáze: | OpenAIRE |
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