A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)

Journal of International Medical Research

Volumn 41, Issue 5, 2013, Pages 1445-1455

  Chen, Yan ^a   He, Zhiyi ^a   Meng, Su ^a   Li, Lei ^a   Yang, Hua ^b   Zhang, Xiaotang ^b  

^a CHINA MEDICAL UNIVERSITY   (China)

^b The Sixth People's Hospital of Shenyang City   (China)

Author keywords

CARASIL; cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; high temperature requirement A serine peptidase 1; HTRA1; mutation

Indexed keywords

LEUCINE; PROLINE; PROTEIN HTRA1; SERINE PROTEINASE; THYMINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTERY DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN INFARCTION; CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CHINESE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; FAMILY STUDY; FEMALE; GENE; GENE AMPLIFICATION; GENE SEQUENCE; HETEROZYGOTE; HIGH TEMPERATURE REQUIREMENT A SERINE PEPTIDASE 1 GENE; HOMOZYGOTE; HUMAN; HYDROGEN BOND; LEUKOENCEPHALOPATHY; MALE; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS;

CARASIL; CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; HIGH-TEMPERATURE REQUIREMENT A SERINE PEPTIDASE 1; HTRA1; MUTATION;

ADULT; ALOPECIA; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CEREBRAL INFARCTION; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYDROGEN BONDING; LEUKOENCEPHALOPATHIES; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SERINE ENDOPEPTIDASES; SPINAL DISEASES;

EID: 84887298277     PISSN: 03000605     EISSN: 14732300     Source Type: Journal    
DOI: 10.1177/0300060513480926     Document Type: Article

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