scholarly journals Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C

2010 ◽  
Vol 52 (5) ◽  
pp. 489-493 ◽  
Author(s):  
CHOONG YI FONG ◽  
ANDREW D MUMFORD ◽  
MARCUS J LIKEMAN ◽  
PHILIP E JARDINE
Keyword(s):  
Cerebral Palsy ◽  
Protein C ◽  
Compound Heterozygous ◽  
Gene Encoding ◽  
Compound Heterozygous Mutations ◽  
Encoding Protein

A novel compound heterozygous mutations in protein C gene causing neonatal purpura fulminans

2018 ◽  
Vol 29 (2) ◽  
pp. 216-219 ◽  
Author(s):  
Huifei Zhang ◽  
Xiaojie Bi ◽  
Zhengxian Su ◽  
Xi Tu ◽  
Lizhen Wang ◽  
...  
Keyword(s):  
Protein C ◽  
Purpura Fulminans ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes

2016 ◽  
Vol 145 ◽  
pp. 93-99 ◽  
Author(s):  
Ming-yang Deng ◽  
Zi-xian Liu ◽  
Hai-fan Huang ◽  
Yong-heng Chen ◽  
Yu-jiao Luo ◽  
...  
Keyword(s):  
Protein C ◽  
Compound Heterozygous ◽  
Protein C Deficiency ◽  
Compound Heterozygous Mutations

Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients

2008 ◽  
Vol 123 (2) ◽  
pp. 412-417 ◽  
Author(s):  
Hee-Jin Kim ◽  
Duk-Kyung Kim ◽  
Kwang-Cheol Koh ◽  
Ji-Youn Kim ◽  
Sun-Hee Kim
Keyword(s):  
Protein C ◽  
Adult Patients ◽  
Compound Heterozygous ◽  
Protein C Deficiency ◽  
Korean Adult ◽  
Compound Heterozygous Mutations ◽  
Proc Gene

Prenatal Diagnosis of Compound Heterozygous Deficiency of Protein C by Direct Detection of the Mutation Sites

1996 ◽  
Vol 76 (02) ◽  
pp. 277-278 ◽  
Author(s):  
Masaru Ido ◽  
Tatsuya Hayashi ◽  
Junji Nishioka ◽  
Masazumi Itoh ◽  
Hiroyuki Minoura ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Protein C ◽  
Direct Detection ◽  
Compound Heterozygous ◽  
Heterozygous Deficiency

Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM

2015 ◽  
Vol 52 (5) ◽  
pp. e7-e8 ◽  
Author(s):  
Kazuyuki Nakamura ◽  
Takehiko Inui ◽  
Fuyuki Miya ◽  
Yonehiro Kanemura ◽  
Nobuhiko Okamoto ◽  
...  
Keyword(s):  
Compound Heterozygous ◽  
Primary Microcephaly ◽  
Compound Heterozygous Mutations
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