Oculocutaneous albinism in Germany:: Spectrum of mutations in the TYR and P gene

被引：0
|
作者：
Opitz, S
Kaufmann, M
Schwinger, E
Zühlke, C
Käsmann-Kellner, B
机构：
[1] UKL, Inst Humangenet, Lubeck, Germany
[2] Univ Saarlandes Kliniken, Augenklin, Homburg, Germany
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2002年 / 10卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页码：206 / 206
页数：1
相关论文
共 50 条
  • [21] Mutational Analysis of TYR Gene Causing Oculocutaneous Albinism in Families from District Peshawar
    Ullah, Farhan
    Khan, Ibrar
    Shah, Sajjad Ali
    Azam, Sadiq
    Faisal, Shah
    Muzamil, Hashir
    INTERNATIONAL JOURNAL OF HUMAN GENETICS, 2019, 19 (04) : 170 - 178
  • [22] Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families
    Muhammad Shakil
    Gaurav V. Harlalka
    Shamshad Ali
    Siying Lin
    Ilaria D’Atri
    Shabbir Hussain
    Abdul Nasir
    Muhammad Aiman Shahzad
    Muhammad Ikram Ullah
    Jay E. Self
    Emma L. Baple
    Andrew H. Crosby
    Saqib Mahmood
    Eye, 2019, 33 : 1339 - 1346
  • [23] Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families
    Shakil, Muhammad
    Harlalka, Gaurav, V
    Ali, Shamshad
    Lin, Siying
    D'Atri, Ilaria
    Hussain, Shabbir
    Nasir, Abdul
    Shahzad, Muhammad Aiman
    Ullah, Muhammad Ikram
    Self, Jay E.
    Baple, Emma L.
    Crosby, Andrew H.
    Mahmood, Saqib
    EYE, 2019, 33 (08) : 1339 - 1346
  • [24] Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism
    Shah, S. A.
    Din, S. U.
    Raheem, N.
    Daud, S.
    Mubeen, J.
    Nadeem, A.
    Tayyab, M.
    Baloch, D. M.
    Babar, M. E.
    Ahmad, J.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2014, 39 (05) : 646 - 648
  • [25] Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient
    Rooryck, Caroline
    Roudaut, Christel
    Robine, Eulalie
    Muesebeck, Jorg
    Arveiler, Benoit
    PIGMENT CELL RESEARCH, 2006, 19 (03): : 239 - 242
  • [26] MUTATIONS OF THE P-GENE IN TYPE-II OCULOCUTANEOUS ALBINISM, PRADER-WILLI-SYNDROME PLUS ALBINISM, AND AUTOSOMAL RECESSIVE OCULAR ALBINISM
    LEE, ST
    NICHOLLS, RD
    SPRITZ, RA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 8 - 8
  • [27] Identification of Genetic Mutations in TYR and OCA2 Genes in Congenital Families with Oculocutaneous Albinism (OCA)
    Ullah, Muhammad Ikram
    Shakil, Muhammad
    Riaz, Adnan
    PAKISTAN JOURNAL OF MEDICAL & HEALTH SCIENCES, 2021, 15 (10): : 2546 - 2549
  • [28] A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China
    LIN Yu-ying
    WEI Ai-hua
    ZHOU Zhi-yong
    ZHU Wei
    HE Xin
    LIAN Shi
    中华医学杂志(英文版), 2011, (20) : 3358 - 3361
  • [29] Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients
    Suzuki, T
    Miyamura, Y
    Matsunaga, J
    Shimizu, H
    Kawachi, Y
    Ohyama, N
    Ishikawa, O
    Ishikawa, T
    Terao, H
    Tomita, Y
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 120 (05) : 781 - 783
  • [30] MUTATIONS AND POLYMORPHISMS OF THE HUMAN P-GENE ASSOCIATED WITH P-RELATED OCULOCUTANEOUS ALBINISM (OCA2)
    OETTING, WS
    BRILLIANT, MH
    GARDINER, JM
    FRYER, JP
    KING, RA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1432 - 1432
12345