KEGG   VARIANT: 4292v1
Entry
4292v1                      Variant                                
Name
MLH1 mutation
Type
Loss of function
Gene
MLH1  mutL homolog 1 [KO:K08734]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120436
Network
nt06503  Mismatch repair
Disease
H02565  Hereditary nonpolyposis colorectal cancer
H02566  Muir-Torre syndrome
Reference
  Authors
Trojan J, Zeuzem S, Randolph A, Hemmerle C, Brieger A, Raedle J, Plotz G, Jiricny J, Marra G
  Title
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
  Journal
Gastroenterology 122:211-9 (2002)
DOI:10.1053/gast.2002.30296
Reference
  Authors
Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernstedt A, Krabichler B, Strasser U, Nystrom M, Zschocke J, Robertson SP, van Haelst MM, Wimmer K
  Title
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
  Journal
Eur J Hum Genet 21:55-61 (2013)
DOI:10.1038/ejhg.2012.117
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