Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan
about
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice siteBiased exon/intron distribution of cryptic and de novo 3' splice sitesMutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease
P2860
Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan
description
1995 nî lūn-bûn
@nan
1995 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Exon redefinition by a point m ...... orage disease type 1a in Japan
@ast
Exon redefinition by a point m ...... orage disease type 1a in Japan
@en
Exon redefinition by a point m ...... orage disease type 1a in Japan
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type
label
Exon redefinition by a point m ...... orage disease type 1a in Japan
@ast
Exon redefinition by a point m ...... orage disease type 1a in Japan
@en
Exon redefinition by a point m ...... orage disease type 1a in Japan
@nl
prefLabel
Exon redefinition by a point m ...... orage disease type 1a in Japan
@ast
Exon redefinition by a point m ...... orage disease type 1a in Japan
@en
Exon redefinition by a point m ...... orage disease type 1a in Japan
@nl
P2093
P2860
P1476
Exon redefinition by a point m ...... orage disease type 1a in Japan
@en
P2093
K Tanigawa
K Yamamoto
S Fujiyama
S Kajihara
S Matsuhashi
P2860
P304
P407
P577
1995-09-01T00:00:00Z