Gene: [06q1/SIASD] sialic acid storage disease;

REF

PAT "Berra B &: Am J Med Genet, 58, 24-31, 1995
LIN,LOC "Haataja L &: AJHG, 54, 1042-1049, 1994
PAT "Mancini GMS &: Eur J Pediatr, 151, 590-595, 1992
PAT "Mancini GMS &: J Clin Invest, 87, 1329-1335, 1991
LIN,LOC "Schleutker J &: AJHG, 57, 893-901, 1995a
LIN,LOC "Schleutker J &: Genomics, 27, 286-292, 1995b

CLA

unknown, basic

LOC

06 q14-15

MIM

MIM: 269920