DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.
Lam
Ching-Wan
CW
Yan
Matthew Shu-Ching
MS
Li
Chi-Kong
CK
Lau
Kin-Chong
KC
Tong
Sui-Fan
SF
Tang
Hoi-Yin
HY
D044466:Asian People; D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008969:Molecular Sequence Data; D009081:Mucolipidoses / Q000175:diagnosis*; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis*; D010375:Pedigree; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics
D004247:DNA