TY  - GEN
AU  - Henseler,M
AU  - Klein,A
AU  - Reber,M
AU  - Vanier,M T
AU  - Landrieu,P
AU  - Sandhoff,K
TI  - Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy
SN  - 0002-9297
PY  - 1996///0221
KW  - Animals
KW  - Base Sequence
KW  - Cell Line
KW  - Child
KW  - Child, Preschool
KW  - Cricetinae
KW  - DNA Primers
KW  - Exons
KW  - Female
KW  - Genes, Recessive
KW  - Glycoproteins
KW  - biosynthesis
KW  - Glycosylation
KW  - Humans
KW  - Kidney
KW  - Leukodystrophy, Metachromatic
KW  - genetics
KW  - Male
KW  - Molecular Sequence Data
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - RNA Splicing
KW  - RNA, Messenger
KW  - metabolism
KW  - Recombinant Proteins
KW  - Reference Values
KW  - Saposins
KW  - Sequence Deletion
KW  - Sphingolipid Activator Proteins
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
ER  -