TY  - GEN
AU  - Sakamoto,Osamu
AU  - Kitoh,Toshiyuki
AU  - Ohura,Toshihiro
AU  - Ohya,Noriaki
AU  - Iinuma,Kazuie
TI  - Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome
SN  - 1434-5161
PY  - 2002///0722
KW  - Acyltransferases
KW  - Cardiomyopathy, Dilated
KW  - genetics
KW  - DNA Mutational Analysis
KW  - DNA Primers
KW  - chemistry
KW  - DNA-Binding Proteins
KW  - Glutarates
KW  - metabolism
KW  - Humans
KW  - Infant
KW  - Japan
KW  - Male
KW  - Muscular Diseases
KW  - Mutation
KW  - Mutation, Missense
KW  - Neutropenia
KW  - Polymerase Chain Reaction
KW  - Proteins
KW  - Syndrome
KW  - Transcription Factors
KW  - X Chromosome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s100380200030
ER  -