title: DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Matthew Shu-Ching
authors.initials: MS
authors.lastname: Yan
authors.forename: Chi-Kong
authors.initials: CK
authors.lastname: Li
authors.forename: Kin-Chong
authors.initials: KC
authors.lastname: Lau
authors.forename: Sui-Fan
authors.initials: SF
authors.lastname: Tong
authors.forename: Hoi-Yin
authors.initials: HY
authors.lastname: Tang
mesh_terms: 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
chemical_list: D004247:DNA