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内部出版物
CNKI学位论文(2)
在“
Elsevier电子期刊
”中,
命中:
2
条,耗时:小于0.01 秒
在所有数据库中总计命中:
2
条
1.
Molecular genetics of the COL2A1-related disorders
作者:
Hao Deng
;
1
;
hdeng008@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Xiangjun Huang
1
;
Lamei Yuan
关键词:
COL2A1
;
the collagen type II alpha-1 gene
;
OMIM
;
Online Mendelian Inheritance in Man
;
ACG2/HCG
;
achondrogenesis type II/hypochondrogenesis
;
PLSDT
;
platyspondylic skeletal
dysplasia
;
Torrance type
;
SPD
;
spondyloperipheral
dysplasia
;
SEDC
;
spondyloepiphyseal
dysplasia
congenita
;
SEMDSTWK
;
spondyloepimetaphyseal
dysplasia
;
Strudwick type
;
STL1
;
Stickler syndrome type I
;
DRRD
;
dominantly inherited rhegmatogenous retinal detachment
;
ANFH
;
avascular necrosis of the femoral head
;
LCPD
;
Legg&ndash
;
Calve
刊名:Mutation Research/Reviews in Mutation Research
出版年:2016
2.
Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with
spondyloperipheral
dysplasia
作者:
Zeng Zhang
a
;
b
;
1
;
Shi-Chang Zhao
a
;
1
;
Jin-Wei He
b
;
Wen-Zhen Fu
b
;
Chang-Qing Zhang
a
;
zhangchangq@yahoo.com.cn
;
Zhen-Lin Zhang
b
;
zzl2002@medmail.com.cn
关键词:
ANFH
;
avascular necrosis of the femoral head
;
COL2A1
;
collagen
;
type II
;
alpha 1
;
ER
;
endoplasmic reticulum
;
PLSD-T
;
platyspondylic skeletal
dysplasia
;
Torrance
;
SPD
;
Spondyloperipheral
dysplasia
;
VPED
;
vitreoretinopathy with phalangeal epiphyseal dysplas
刊名:Gene
出版年:2013
1
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