A Chinese case of oculocutaneous albinism type 4 with two novel mutations.
Li
Hongyi
H
Meng
Shu
S
Zheng
Hui
H
Wei
Haiyun
H
Zhang
Ying
Y
D016115:Albinism, Oculocutaneous / Q000235:genetics; D000951:Antigens, Neoplasm / Q000235:genetics*; D044466:Asian People; D002648:Child; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D022821:RNA Splice Sites / Q000235:genetics; D017422:Sequence Analysis, DNA
D000951:Antigens, Neoplasm; D026901:Membrane Transport Proteins; D022821:RNA Splice Sites; C510061:SLC45A2 protein, human