Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.
about
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugsIntrinsic differences between authentic and cryptic 5' splice sites.Defects in RNA splicing and the consequence of shortened translational reading frames.
P2860
Q24648149-016EBD17-5713-481D-8E12-1ADA567FBEFAQ34384444-E3370E97-561C-4B55-A5BE-BE4305979BD7Q35204461-2FDE6FEC-AB69-4906-AF6C-53C9260B3F4FQ35238731-142E72AD-A8D9-4B77-8625-698B2E66544EQ35249597-5283F4A8-1E00-48C3-8612-BFCE784BCCFCQ36317125-CD4B8405-C674-4942-941F-FC06A73104DEQ40240461-D787E3B1-609C-4B76-B1C8-B24938488C5AQ42590534-52D3B5CB-5FF0-40BA-B42F-ECE29A93F205
P2860
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Identification of two splicing ...... trophic epidermolysis bullosa.
@ast
Identification of two splicing ...... trophic epidermolysis bullosa.
@en
type
label
Identification of two splicing ...... trophic epidermolysis bullosa.
@ast
Identification of two splicing ...... trophic epidermolysis bullosa.
@en
prefLabel
Identification of two splicing ...... trophic epidermolysis bullosa.
@ast
Identification of two splicing ...... trophic epidermolysis bullosa.
@en
P2093
P2860
P1476
Identification of two splicing ...... strophic epidermolysis bullosa
@en
P2093
P2860
P304
P407
P577
1996-08-01T00:00:00Z