TY  - GEN
AU  - Dörk,Thilo
AU  - Bendix-Waltes,Regina
AU  - Wegner,Rolf-Dieter
AU  - Stumm,Markus
TI  - Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations
SN  - 1552-4825
PY  - 2004///0423
KW  - Age of Onset
KW  - Ataxia Telangiectasia
KW  - genetics
KW  - Ataxia Telangiectasia Mutated Proteins
KW  - Cell Cycle Proteins
KW  - metabolism
KW  - Child
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Disease Progression
KW  - Frameshift Mutation
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Nuclear Proteins
KW  - Protein Serine-Threonine Kinases
KW  - chemistry
KW  - RNA Splicing
KW  - Tumor Suppressor Protein p53
KW  - Tumor Suppressor Proteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.20601
ER  -