Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

K Mayer; MA (Miriam) Goedbloed; K van Zijl; Mark Nellist; H-D Rott

Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

K Mayer, MA (Miriam) Goedbloed, K van Zijl, Mark Nellist, H-D Rott

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

42 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	64-65
Number of pages	2
Journal	Journal of Medical Genetics
Volume	41
Publication status	Published - 2004

Research programs

EMC MGC-02-96-01

Cite this

@article{27475fdf421a4c89a14eb273c5cd1778,

title = "Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis",

author = "K Mayer and Goedbloed, {MA (Miriam)} and {van Zijl}, K and Mark Nellist and H-D Rott",

year = "2004",

language = "Undefined/Unknown",

volume = "41",

pages = "64--65",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

}

TY - JOUR

T1 - Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

AU - Mayer, K

AU - Goedbloed, MA (Miriam)

AU - van Zijl, K

AU - Nellist, Mark

AU - Rott, H-D

PY - 2004

Y1 - 2004

M3 - Article

SN - 0022-2593

VL - 41

SP - 64

EP - 65

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

ER -