Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defective
lysosome-related organelles. Here, we report the identification of two HPS patients with mutations …

Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the
gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and seven …

Purpose: Previous studies found a strong association between HLA‐B*1502 and
carbamazepine (CBZ)‐induced Stevens‐Johnson syndrome (SJS) in Han Chinese, but not in …

Background Hermansky–Pudlak syndrome is characterized by oculocutaneous albinism, a
storage-pool deficiency, and lysosomal accumulation of ceroid lipofuscin, which causes …

Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with a strong genetic
involvement and ethnic differences. Susceptibility genes identified so far only explain a …

Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay,
intellectual disability, specific facial features including long palpebral fissures and ectropion …

Nephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized
by renal failure at 10 years of age and other systemic complications. The gene for cystinosis…

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by
pigment dilution, nystagmus, decreased visual acuity, a bleeding diathesis, and lysosomal …

Recent studies associated the HLA-B ∗ 1502 allele with carbamazepine (CBZ)-induced
Stevens–Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) in patients from China, …

Nasopharyngeal cancer (NPC) constitutes a type of carcinoma encountered frequently in
Southern China, among Eskimos of the Arctic region, and to a lesser extent in Southeast Asia. …