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dc.contributor.authorRautenstrauss, B
dc.contributor.authorNelis, E
dc.contributor.authorZerres, K
dc.contributor.authorParman, Y
dc.contributor.authorHahn, A
dc.contributor.authorMuller-Felber, W
dc.contributor.authorRizzuto, N
dc.contributor.authorFabrizi, GM
dc.contributor.authorStuhrmann, M
dc.contributor.authorRudnik-Schoneborn, S
dc.contributor.authorZuchner, S
dc.contributor.authorSchroder, JM
dc.contributor.authorBuchheim, E
dc.contributor.authorStraub, V
dc.contributor.authorKlepper, JR
dc.contributor.authorHuehne, K
dc.contributor.authorButtner, R
dc.contributor.authorSenderek, J
dc.contributor.authorBergmann, C
dc.contributor.authorStendel, C
dc.contributor.authorKirfel, J
dc.contributor.authorVerpoorten, N
dc.contributor.authorDe Jonghe, P
dc.contributor.authorTimmerman, V
dc.contributor.authorChrast, R
dc.contributor.authorVerheijen, MHG
dc.contributor.authorLemke, G
dc.contributor.authorBattaloglu, E
dc.contributor.authorErdem, S
dc.contributor.authorTan, E
dc.contributor.authorTopaloglu, H
dc.date.accessioned2021-03-05T17:33:32Z
dc.date.available2021-03-05T17:33:32Z
dc.date.issued2003
dc.identifier.citationSenderek J., Bergmann C., Stendel C., Kirfel J., Verpoorten N., De Jonghe P., Timmerman V., Chrast R., Verheijen M., Lemke G., et al., "Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy", AMERICAN JOURNAL OF HUMAN GENETICS, cilt.73, ss.1106-1119, 2003
dc.identifier.issn0002-9297
dc.identifier.othervv_1032021
dc.identifier.otherav_c61aa37c-8792-4e7a-a9b5-8e09525a4c80
dc.identifier.urihttp://hdl.handle.net/20.500.12627/131348
dc.identifier.urihttps://doi.org/10.1086/379525
dc.description.abstractCharcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited as an autosomal recessive trait and has been mapped to a 13-cM linkage interval on chromosome 5q23-q33. By homozygosity mapping and allele-sharing analysis, we refined the CMT4C locus to a suggestive critical region of 1.7 Mb. We subsequently identified mutations in an uncharacterized transcript, KIAA1985, in 12 families with autosomal recessive neuropathy. We observed eight distinct protein-truncating mutations and three nonconservative missense mutations affecting amino acids conserved through evolution. In all families, we identified a mutation on each disease allele, either in the homozygous or in the compound heterozygous state. The CMT4C gene is strongly expressed in neural tissues, including peripheral nerve tissue. The translated protein defines a new protein family of unknown function with putative orthologues in vertebrates. Comparative sequence alignments indicate that members of this protein family contain multiple SH3 and TPR domains that are likely involved in the formation of protein complexes.
dc.language.isoeng
dc.subjectGENETİK VE HAYAT
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectSağlık Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.titleMutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
dc.typeMakale
dc.relation.journalAMERICAN JOURNAL OF HUMAN GENETICS
dc.contributor.department, ,
dc.identifier.volume73
dc.identifier.issue5
dc.identifier.startpage1106
dc.identifier.endpage1119
dc.contributor.firstauthorID169889


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