Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance

Human Mutation

Volumn 20, Issue 5, 2002, Pages 375-381

  Shoji, Yutaka ^a   Noguchi, Atsuko ^a   Shoji, Yasuko ^a   Matsumori, Mika ^a   Takasago, Yuhei ^b   Takayanagi, Masaki ^c   Yoshida, Yoshihiro ^d   Ihara, Kenji ^e   Hara, Toshiro ^e   Yamaguchi, Shuichi ^f   Yoshino, Makoto ^g   Kaji, Masayuki ^h   Yamamoto, Shigenori ⁱ   Nakai, Akio ^j   Koizumi, Akio ^k   Hokezu, Youichi ^l   Nagamatsu, Keiji ^l   Mikami, Hitoshi ^m   Kitajima, Isao ⁿ   Takada, Goro ^a  

^a AKITA UNIVERSITY   (Japan)

^b Morioka Children's Hospital   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d KAGOSHIMA UNIVERSITY   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

^f SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^g KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

ⁱ CHIBA UNIVERSITY   (Japan)

^j UNIVERSITY OF FUKUI   (Japan)

^k KYOTO UNIVERSITY   (Japan)

^l OITA PREFECTURAL HOSPITAL   (Japan)

^m Iwate Prefectural Central Hospital   (Japan)

ⁿ UNIVERSITY OF TOYAMA   (Japan)

more..

Author keywords

Gene expression; LPI; Lysinuric protein intolerance; SLC7A6; SLC7A7

Indexed keywords

AMINO ACID TRANSPORTER; COMPLEMENTARY DNA; GENE PRODUCT; MESSENGER RNA; PROTEIN LAT 1; PROTEIN SLC7A7; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID TRANSPORT; ARTICLE; BRAIN; CELL CULTURE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ETHNOLOGY; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENETIC CODE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; KIDNEY; LYMPHOBLAST; LYSINURIC PROTEIN INTOLERANCE; MALE; MUSCLE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN INTOLERANCE; SEQUENCE ANALYSIS; SKIN FIBROBLAST; SMALL INTESTINE;

ADOLESCENT; AMINO ACID TRANSPORT DISORDERS, INBORN; AMINO ACID TRANSPORT SYSTEM Y+L; AMINO ACID TRANSPORT SYSTEMS, BASIC; ANTIGENS, CD98 LIGHT CHAINS; BASE SEQUENCE; CATIONIC AMINO ACID TRANSPORTER 1; CELLS, CULTURED; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; JAPAN; LYMPHOCYTE ACTIVATION; LYMPHOCYTES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RNA, MESSENGER; TRANSCRIPTION, GENETIC; VARIATION (GENETICS);

EID: 18644374709     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10140     Document Type: Article

References (21)

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