A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder

International Journal of Dermatology

Volumn 48, Issue 4, 2009, Pages 388-392

  Zheng, Yanhong ^a   Zhou, Cuncai ^a   Huang, Yongchu ^a   Bu, Dingfang ^a   Zhu, Xuejun ^a   Jiang, Wei ^a,b  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b PEKING UNIVERSITY THIRD HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMINO ACID TRANSPORTER; GENOMIC DNA; PROTEIN SLC6A19; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; AMINO ACID URINE LEVEL; ARTICLE; CHINESE; CLINICAL ARTICLE; FAMILY; FEMALE; GENE AMPLIFICATION; HARTNUP DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PEDIGREE ANALYSIS; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SKIN DISEASE;

AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; AMINO ACIDS; ASIAN CONTINENTAL ANCESTRY GROUP; EXONS; FAMILY HEALTH; FEMALE; HARTNUP DISEASE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; YOUNG ADULT;

EID: 63249120882     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2009.03989.x     Document Type: Article

References (10)

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