Two independent mutations in a family with neurofibromatosis type 1 (NF1).
about
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeTwo sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.The effect of parental age on NF1 patients in Turkey.
P2860
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
description
1999 nî lūn-bûn
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1999年の論文
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1999年学术文章
@wuu
1999年学术文章
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1999年学术文章
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1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
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1999年學術文章
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1999年學術文章
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name
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
@en
Two independent mutations in a family with neurofibromatosis type 1
@nl
type
label
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
@en
Two independent mutations in a family with neurofibromatosis type 1
@nl
prefLabel
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
@en
Two independent mutations in a family with neurofibromatosis type 1
@nl
P2093
P1476
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
@en
P2093
Hoffmeyer S
Nürnberg P
Tinschert S
P356
10.1002/(SICI)1096-8628(19990305)83:1<6::AID-AJMG3>3.3.CO;2-5
P577
1999-03-01T00:00:00Z