Related references
Note: Only part of the references are listed.Tyrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1
Kunal Ray et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2007)
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation
Justin Graf et al.
HUMAN MUTATION (2007)
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient
Caroline Rooryck et al.
PIGMENT CELL RESEARCH (2006)
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy
C Goizet et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis -: art. no. e118
F Niel et al.
JOURNAL OF MEDICAL GENETICS (2004)
Mutations in the MATP gene in five German patients affected by Oculocutaneous albinism type 4
U Rundshagen et al.
HUMAN MUTATION (2004)
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
I Coupry et al.
JOURNAL OF MEDICAL GENETICS (2001)
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
R Halaban et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature
JF Berson et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)