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Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome
T. S. Jap
*
, C. Y. Chiu,
J. F. Lirng
, G. S. Won
*
此作品的通信作者
醫學系放射線學科
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引文 斯高帕斯(Scopus)
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Keyphrases
Han Chinese
100%
Novel mutation
100%
Chinese Subjects
100%
KAL1
100%
Kallmann Syndrome
100%
Codon
37%
Taiwan
25%
Cysteine
25%
Missense mutation
25%
Male Age
25%
Hypogonadotropic Hypogonadism
25%
PROKR2
25%
Exon 9
12%
DNA Sequence Analysis
12%
Glycine
12%
Truncated Protein
12%
Arginine
12%
Gene mutation
12%
Transversion
12%
Hemizygous
12%
Clinical Manifestations
12%
Phenotypic Characteristics
12%
Olfactory Bulb
12%
Nonsense mutation
12%
Genomic DNA Extraction
12%
KAL2
12%
Bulb Development
12%
Biochemistry, Genetics and Molecular Biology
Missense Mutation
100%
KAL1 Gene
100%
Codon
42%
Cysteine
28%
Exon
14%
DNA Sequence
14%
Gene Mutation
14%
Transversion
14%
Nonsense Mutation
14%
DNA Extraction
14%
Genomics
14%
Arginine
14%