A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
about
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian HedgehogIdentification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).Answering a century old riddle: brachydactyly type A1.Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population.Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.
P2860
Q34327062-10151E74-570A-4015-B16F-5D9C87BC5C9BQ35142101-4A25D8E2-4B36-46DC-A99A-27213E413B19Q35406330-53025CFD-7028-4B86-8213-058345A64A21Q35822127-54B6EF13-178B-4786-95BC-61E59029F72DQ43225092-717652C7-0008-437B-A7EC-9302A05C98A5Q52592911-990FFC8E-93D8-45E2-A22B-D78A82EB626AQ52947093-12C090F0-3D59-4881-8B77-9AB098FA0CE1Q53588836-61538D43-FC1B-4064-8F9D-E835A4C77A3E
P2860
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
@en
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
@nl
type
label
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
@en
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
@nl
prefLabel
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
@en
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
@nl
P2093
P356
P1476
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
@en
P2093
P304
P356
10.1136/JMG.39.3.186
P407
P577
2002-03-01T00:00:00Z