TY  - GEN
AU  - Betsalel,Ofir T
AU  - van de Kamp,Jiddeke M
AU  - Martínez-Muñoz,Cristina
AU  - Rosenberg,Efraim H
AU  - de Brouwer,Arjan P M
AU  - Pouwels,Petra J W
AU  - van der Knaap,Marjo S
AU  - Mancini,Grazia M S
AU  - Jakobs,Cornelis
AU  - Hamel,Ben C J
AU  - Salomons,Gajja S
TI  - Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
SN  - 1364-6753
PY  - 2009///0615
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cells, Cultured
KW  - Chromatography, High Pressure Liquid
KW  - DNA
KW  - blood
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Genes, X-Linked
KW  - Germ-Line Mutation
KW  - Humans
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - Molecular Sequence Data
KW  - Mosaicism
KW  - Nerve Tissue Proteins
KW  - Nucleic Acid Denaturation
KW  - Pedigree
KW  - Plasma Membrane Neurotransmitter Transport Proteins
KW  - Sequence Deletion
KW  - Sequence Homology, Amino Acid
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10048-008-0125-5
ER  -