Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
about
Contributions of epsinR and gadkin to clathrin-mediated intracellular traffickingThe genetics of human skin disease.New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.Cole Disease Results from Mutations in ENPP1.Next-generation sequencing applied to rare diseases genomics.Discovery in genetic skin disease: the impact of high throughput genetic technologiesLow-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.Palmoplantar keratodermas: clinical and genetic aspects.Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.Keratotic papules of palms and soles.Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.[Practical aspects of molecular diagnostics in genodermatoses].Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma.A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
P2860
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P2860
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
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2012年學術文章
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name
Nonsense mutations in AAGAB ca ...... a type Buschke-Fischer-Brauer.
@ast
Nonsense mutations in AAGAB ca ...... a type Buschke-Fischer-Brauer.
@en
type
label
Nonsense mutations in AAGAB ca ...... a type Buschke-Fischer-Brauer.
@ast
Nonsense mutations in AAGAB ca ...... a type Buschke-Fischer-Brauer.
@en
prefLabel
Nonsense mutations in AAGAB ca ...... a type Buschke-Fischer-Brauer.
@ast
Nonsense mutations in AAGAB ca ...... a type Buschke-Fischer-Brauer.
@en
P2093
P2860
P1476
Nonsense mutations in AAGAB ca ...... a type Buschke-Fischer-Brauer.
@en
P2093
Elisabeth Graf
Gertrud N Eckstein
Kathrin A Giehl
Kerstin Seidl
Lutz Langbein
Markus Braun-Falco
Mike Rogers
Regina C Betz
Sandra M Pasternack
Silke Praetzel-Wunder
P2860
P304
P356
10.1016/J.AJHG.2012.08.024
P407
P577
2012-09-20T00:00:00Z