Orphanet Journal of Rare Diseases
SCOPUS (2006-2023)SCIE-ISI
1750-1172
Cơ quản chủ quản: BioMed Central Ltd. , BMC
Lĩnh vực:
Genetics (clinical)Pharmacology (medical)Medicine (miscellaneous)
Các bài báo tiêu biểu
Oculocutaneous albinismAbstract
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. ... ... hiện toàn bộ
Tập 2 Số 1 - 2007