FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1535212598> ?p ?o ?g. }

• W1535212598 abstract "Abstract The term albinism refers to a group of congenital genetic abnormalities resulting from an inability of the pigment cell (melanocyte) to synthesize normal amounts of melanin pigment and is produced by mutations in at least 12 genes. Reduced melanin synthesis in the melanocytes of the skin, hair, and eyes produces oculocutaneous albinism, while a reduction primarily involving the retinal pigment epithelium produces ocular albinism. Hermansky‐Pudlak syndrome includes the triad of oculocutaneous albinism, a mild bleeding diathesis, and a ceroid storage disease affecting primarily the lungs and the gut. Oculocutaneous albinism is the most common inherited disorder of generalized hypopigmentation, with an estimated frequency of 1 in 20,000 in most populations. It has been described in all ethnic groups and in all animal species making it one of the most widely distributed genetic abnormalities in the animal kingdom. Ocular albinism is less common with an estimated frequency of 1 in 50,000 to 1 in 60,000. It is X‐linked. Hermansky‐Pudlak syndrome is a rare condition in most populations. In the Puerto Rican population, however, two forms are found with type 1 having an estimated frequency of approximately 1 in 1800." @default.
• W1535212598 created "2016-06-24" @default.
• W1535212598 creator A5006247678 @default.
• W1535212598 creator A5037627291 @default.
• W1535212598 date "2005-01-14" @default.
• W1535212598 modified "2023-10-13" @default.
• W1535212598 title "Albinism and Hermansky-Pudlak Syndrome" @default.
• W1535212598 cites W134957199 @default.
• W1535212598 cites W1535022681 @default.
• W1535212598 cites W1550555606 @default.
• W1535212598 cites W1835149745 @default.
• W1535212598 cites W1963559953 @default.
• W1535212598 cites W1970469014 @default.
• W1535212598 cites W1971202093 @default.
• W1535212598 cites W1973439201 @default.
• W1535212598 cites W1973505172 @default.
• W1535212598 cites W1976749251 @default.
• W1535212598 cites W1978366861 @default.
• W1535212598 cites W1981974890 @default.
• W1535212598 cites W1987033565 @default.
• W1535212598 cites W1987948820 @default.
• W1535212598 cites W1988524770 @default.
• W1535212598 cites W1990693390 @default.
• W1535212598 cites W1995429194 @default.
• W1535212598 cites W1997830222 @default.
• W1535212598 cites W1999435075 @default.
• W1535212598 cites W2001933259 @default.
• W1535212598 cites W2002224046 @default.
• W1535212598 cites W2003490009 @default.
• W1535212598 cites W2007053526 @default.
• W1535212598 cites W2013944173 @default.
• W1535212598 cites W2016328283 @default.
• W1535212598 cites W2022275011 @default.
• W1535212598 cites W2023560082 @default.
• W1535212598 cites W2024875426 @default.
• W1535212598 cites W2026070613 @default.
• W1535212598 cites W2026654715 @default.
• W1535212598 cites W2027563690 @default.
• W1535212598 cites W2027810940 @default.
• W1535212598 cites W2030226370 @default.
• W1535212598 cites W2030721889 @default.
• W1535212598 cites W2036671742 @default.
• W1535212598 cites W2038635329 @default.
• W1535212598 cites W2042419999 @default.
• W1535212598 cites W2043321552 @default.
• W1535212598 cites W2044448605 @default.
• W1535212598 cites W2051648246 @default.
• W1535212598 cites W2059892834 @default.
• W1535212598 cites W2060589186 @default.
• W1535212598 cites W2061060278 @default.
• W1535212598 cites W2065396636 @default.
• W1535212598 cites W2072566861 @default.
• W1535212598 cites W2074753706 @default.
• W1535212598 cites W2076841301 @default.
• W1535212598 cites W2077864934 @default.
• W1535212598 cites W2079984574 @default.
• W1535212598 cites W2082494587 @default.
• W1535212598 cites W2085885616 @default.
• W1535212598 cites W2085940317 @default.
• W1535212598 cites W2086473822 @default.
• W1535212598 cites W2090770002 @default.
• W1535212598 cites W2091457745 @default.
• W1535212598 cites W2091527733 @default.
• W1535212598 cites W2094983148 @default.
• W1535212598 cites W2096357474 @default.
• W1535212598 cites W2098842465 @default.
• W1535212598 cites W2099305458 @default.
• W1535212598 cites W2101121350 @default.
• W1535212598 cites W2115643821 @default.
• W1535212598 cites W2132341987 @default.
• W1535212598 cites W2138040059 @default.
• W1535212598 cites W2140770235 @default.
• W1535212598 cites W2141609127 @default.
• W1535212598 cites W2149277955 @default.
• W1535212598 cites W2156638024 @default.
• W1535212598 cites W2170365741 @default.
• W1535212598 cites W2172089648 @default.
• W1535212598 cites W2334019448 @default.
• W1535212598 cites W2421468294 @default.
• W1535212598 cites W4253506771 @default.
• W1535212598 cites W4301479582 @default.
• W1535212598 cites W4366194311 @default.
• W1535212598 doi "https://doi.org/10.1002/0471695998.mgs005" @default.
• W1535212598 hasPublicationYear "2005" @default.
• W1535212598 type Work @default.
• W1535212598 sameAs 1535212598 @default.
• W1535212598 citedByCount "1" @default.
• W1535212598 crossrefType "other" @default.
• W1535212598 hasAuthorship W1535212598A5006247678 @default.
• W1535212598 hasAuthorship W1535212598A5037627291 @default.
• W1535212598 hasConcept C107538193 @default.
• W1535212598 hasConcept C142724271 @default.
• W1535212598 hasConcept C16005928 @default.
• W1535212598 hasConcept C2775849878 @default.
• W1535212598 hasConcept C2775902910 @default.
• W1535212598 hasConcept C2776291823 @default.
• W1535212598 hasConcept C2779778433 @default.
• W1535212598 hasConcept C2780559512 @default.
• W1535212598 hasConcept C2781244666 @default.
• W1535212598 hasConcept C2908647359 @default.

• next