Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
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The RASopathiesCardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsDeletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?Interaction of tRNA with MEK2 in pancreatic cancer cellsPrevalence of Café-au-Lait Spots in children with solid tumors.Ras/MAPK syndromes and childhood hemato-oncological diseases.p53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentationFetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.Multiple café au lait spots in familial patients with MAP2K2 mutation.Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
P2860
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P2860
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
description
2010 nî lūn-bûn
@nan
2010年の論文
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2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Molecular and functional analy ...... sion through four generations.
@en
Molecular and functional analy ...... sion through four generations.
@nl
type
label
Molecular and functional analy ...... sion through four generations.
@en
Molecular and functional analy ...... sion through four generations.
@nl
prefLabel
Molecular and functional analy ...... sion through four generations.
@en
Molecular and functional analy ...... sion through four generations.
@nl
P2093
P2860
P356
P1476
Molecular and functional analy ...... sion through four generations.
@en
P2093
Anne L Estep
Henry M Peltier
Katherine A Rauen
Sherri J Bale
Srirangan Sampath
William E Tidyman
Yves Lacassie
P2860
P304
P356
10.1002/AJMG.A.33342
P407
P577
2010-04-01T00:00:00Z