Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia.
Shin
Youn-Jeong
YJ
Seoul National University College of Medicine, Republic of Korea.
D044466:Asian People / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics*; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000235:genetics*; D007723:Korea; D010022:Osteopetrosis / Q000235:genetics*; D017354:Point Mutation; D013921:Thrombocytopenia / Q000209:etiology*
C097540:CLCN7 protein, human; D018118:Chloride Channels