An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.
about
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiencySequencing analysis of insulin receptor defects and detection of two novel mutations in INSR geneRabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit.
P2860
An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.
description
1993 nî lūn-bûn
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1993年の論文
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1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
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name
An in-frame insertion in exon ...... th Rabson-Mendenhall syndrome.
@en
type
label
An in-frame insertion in exon ...... th Rabson-Mendenhall syndrome.
@en
prefLabel
An in-frame insertion in exon ...... th Rabson-Mendenhall syndrome.
@en
P2093
P356
P1433
P1476
An in-frame insertion in exon ...... th Rabson-Mendenhall syndrome.
@en
P2093
D Müller-Wieland
E R van der Vorm
E Seemanova
H W Rüdiger
J A Maassen
R Streicher
S R Rosipal
P2888
P304
P356
10.1007/BF00401062
P577
1993-11-01T00:00:00Z
P6179
1029085862