A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
about
Novel human and mouse genes encoding an acid phosphatase family member and its downregulation in W/W(V) mouse jejunumN-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-LomRelaxin family peptide receptors--former orphans reunite with their parent ligands to activate multiple signalling pathwaysHomozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseIdentification and characterisation of GPR100 as a novel human G-protein-coupled bradykinin receptorExpression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutationA second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.Deciphering peripheral nerve myelination by using Schwann cell expression profiling.A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.Autosomal-recessive Charcot-Marie-Tooth diseases.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Mutations in the LMNA gene do not cause axonal CMT in Czech patients.Nerve conduction abnormalities in aging mice deficient for myelin-associated glycoprotein.Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsHereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsies
P2860
Q24297427-A301AAC3-4279-4F54-A378-379EC4E3E6BAQ24538722-046AA554-7165-4523-8B2F-240DCBCB4808Q24564959-E5AAB9AE-F663-45C2-8A1B-5B6FE1A78D04Q24632769-0F2FD8C5-DA18-467B-A610-2F69C15371FDQ24672306-D9201C14-DABA-4324-ACD0-BAD4ACF7D964Q24798448-E149A920-A3C0-4428-87F9-F618382697C9Q34043765-299484B3-D967-4100-831D-69067EAE6552Q34066520-BE2B9A30-21F0-4370-B474-E88BC0714B8FQ34142656-0CDFC84C-8929-4D71-BFC4-3F209E87AFEDQ36126350-0B047DE1-3749-466D-ADE8-7C898D59B288Q36507152-37B8E0B1-B3DD-40D1-9179-002CD5A66BDEQ37843794-31479A12-E3FA-418D-B72D-AD254B16F4DBQ38115571-CD2DABDA-FDE2-4CCE-ABED-547BDE246C03Q47856873-9737EA18-4377-4B05-BB71-3510E45ED2CEQ48788255-BAD1655F-310B-4D2D-BEC2-115DCC270E75Q55670527-29E4E9C8-2099-4541-9631-34608D7B0505Q57640065-0A067DB0-C1A7-4EAB-A658-82A99702EF02
P2860
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@ast
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@en
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@nl
type
label
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@ast
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@en
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@nl
prefLabel
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@ast
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@en
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@nl
P2093
P2860
P356
P1476
A locus for an axonal form of ...... ps to chromosome 1q21.2-q21.3.
@en
P2093
Mularoni A
Vandenberghe A
P2860
P304
P356
10.1086/302542
P407
P577
1999-09-01T00:00:00Z