Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Nature Genetics

Volumn 36, Issue 9, 2004, Pages 999-1002

  Kleta, Robert ^a,b   Romeo, Elisa ^c   Ristic, Zorica ^c   Ohura, Toshihiro ^d   Stuart, Caroline ^a   Arcos Burgos, Mauricio ^a   Dave, Mital H ^c   Wagner, Carsten A ^c   Camargo, Simone R M ^c   Inoue, Sumiko ^e   Matsuura, Norio ^e   Helip Wooley, Amanda ^a   Bockenhauer, Detlef ^f   Warth, Richard ^g   Bernardini, Isa ^a   Visser, Gepke ^h   Eggermann, Thomas ⁱ   Lee, Philip ^j   Chairoungdua, Arthit ^k   Jutabha, Promsuk ^k   Babu, Ellappan ^k   Nilwarangkoon, Sirinun ^k   Anzai, Naohiko ^k   Kanai, Yoshikatsu ^k   Verrey, Francois ^c   Gahl, William A ^a,b   Koizumi, Akio ^e   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF REGENSBURG   (Germany)

^h UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

ⁱ UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^j NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^k KYORIN UNIVERSITY SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMINO ACID TRANSPORTER; B0AT1 PROTEIN; GENE PRODUCT; HARTNUP TRANSPORTER; NEUTRAL AMINO ACID; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID TRANSPORT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 13; CHROMOSOME 5P; EPITHELIUM CELL; FAMILY STUDY; GENE; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; HARTNUP DISEASE; HUMAN; HUMAN TISSUE; INTESTINE MUCOSA; KIDNEY PROXIMAL TUBULE; MALE; MOUSE; MOUSE CHROMOSOME 13; NONHUMAN; NUCLEOTIDE SEQUENCE; PELLAGRA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PSYCHOSIS; SEQUENCE HOMOLOGY; SLC6A19 GENE; SYMPTOMATOLOGY;

AMINO ACID SEQUENCE; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; HARTNUP DISEASE; HUMANS; KIDNEY; MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

ANIMALIA;

EID: 4444367483     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1405     Document Type: Article

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