A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
about
Novel WDR72 mutation and cytoplasmic localizationFam83h is associated with intracellular vesicles and ADHCAIMutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcificationHuman and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfectaExclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.Amelogenesis imperfectaAmelogenesis imperfecta: Report of a case and review of literatureFam83h null mice support a neomorphic mechanism for human ADHCAIDefining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.
P2860
Q24302413-1A643E79-1EEF-419D-86F3-71501FCD9163Q24630922-7D5AB4BE-3B1C-42DD-9967-7890826B971AQ24631652-AED49CBD-6BAE-4159-99D7-177956EB2D2FQ24643530-7DB1EA74-602F-43FD-88D4-23D529FB520FQ24655763-30C55A33-2998-4FC6-BA0E-AE664BC6D1BDQ34574582-FF3DCB2B-0A80-4E3A-82B1-A4CF10A7A6C2Q34578374-CCAE8742-A0DC-4181-AC2C-63A4EA6BB7D0Q35184060-A71DCB39-5830-4E79-B21B-DC22D641BC24Q36447396-B5AA5A36-60D5-4C32-B121-0460A033A85DQ37815423-99DB17B3-4177-4ADC-AEEE-436A2FEC66B7Q39427065-3EEE856E-2873-4CD6-9F73-3AEFFAAA0058Q46293463-D44A3B23-4C9F-42FF-88D4-9FE0D983EB5A
P2860
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
@en
type
label
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
@en
prefLabel
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
@en
P2093
P50
P1433
P1476
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
@en
P2093
Catalina Gonzalez-Quevedo
Gustavo Mendoza
Hooman Allayee
Jaana Hartiala
Malcolm L Snead
Ruty Mehrian-Shai
Sergio R P Line
Suzanne M Leal
Vasiliki Ninis
P2860
P2888
P304
P356
10.1007/S00439-006-0246-6
P577
2006-09-21T00:00:00Z
P6179
1053696357