Oculocutaneous albinism associated with multiple malformations and psychomotor retardation

P gene mutations associated with oculocu

P gene mutations associated with oculocutaneous albinism type II (OCA2)

✍ William S. Oetting; Sarah Savage Garrett; Marcia Brott; Richard A. King 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB

## Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domain

Meningococccal meningitis and complement

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism

✍ Aydan Ikinciogullari; Mustafa Tekin; Figen Dogu; Ismail Reisli; Gonul Tanir; Zan 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 247 KB

Analysis of Tyrosinase Mutations Associa

Analysis of Tyrosinase Mutations Associated With Tyrosinase-Related Oculocutaneous Albinism (OCAI)

✍ OETTING, WILLIAM S. ;KING, RICHARD A. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 626 KB

Mutations of the human tyrosinase gene a

Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)

✍ WS Oetting; JP Fryer; RA King 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 104 KB 👁 1 views

Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat

Mutations of the human P gene associated

Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)

✍ WS Oetting; JM Gardner; JP Fryer; A Ching; D Durham-Pierre; RA King; MH Brillian 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 104 KB 👁 1 views

Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat

Multiple Inflamed Nevi in a Child with O

Multiple Inflamed Nevi in a Child with Oculocutaneous Albinism: What Lessons can be Learned?

✍ KAM-LUN ELLIS HON; GARY KA-WAI CHING; TUNG AUDREY KWOK; PAUL CHEUNG LUNG CHOI 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB