TY  - GEN
AU  - Hulková,H
AU  - Cervenková,M
AU  - Ledvinová,J
AU  - Tochácková,M
AU  - Hrebícek,M
AU  - Poupetová,H
AU  - Befekadu,A
AU  - Berná,L
AU  - Paton,B C
AU  - Harzer,K
AU  - Böör,A
AU  - Smíd,F
AU  - Elleder,M
TI  - A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
SN  - 0964-6906
PY  - 2001///0802
KW  - Antigens, CD
KW  - Base Sequence
KW  - Codon
KW  - DNA Primers
KW  - chemistry
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Gangliosides
KW  - Glycolipids
KW  - Glycoproteins
KW  - deficiency
KW  - Glycosphingolipids
KW  - Humans
KW  - Infant, Newborn
KW  - Lactosylceramides
KW  - biosynthesis
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Polymerase Chain Reaction
KW  - Saposins
KW  - Sphingolipidoses
KW  - genetics
KW  - Sulfoglycosphingolipids
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/10.9.927
ER  -