Combined linkage analysis and exome sequencing identifies novel genes for familial goiter

Journal of Human Genetics

Volumn 58, Issue 6, 2013, Pages 366-377

  Yan, Junxia ^a   Takahashi, Tsutomu ^b   Ohura, Toshihiro ^c   Adachi, Hiroyuki ^b   Takahashi, Ikuko ^b   Ogawa, Eishin ^d   Okuda, Hiroko ^a   Kobayashi, Hatasu ^a   Hitomi, Toshiaki ^a   Liu, Wanyang ^a   Harada, Kouji H ^a   Koizumi, Akio ^a  

^a KYOTO UNIVERSITY   (Japan)

^b AKITA UNIVERSITY   (Japan)

^c SENDAI CITY HOSPITAL   (Japan)

^d TEIKYO UNIVERSITY   (Japan)

Author keywords

CLIC6; congenital hypothyroidism; familial goiter; GRPEL1; RGS12; WFS1

Indexed keywords

PROTEIN; PROTEIN CLIC 6; PROTEIN GRPEL1; PROTEIN RSG 12; PROTEIN WFS 1; THYROTROPIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; EXOME; FAMILIAL GOITER; FEMALE; FREE LIOTHYRONINE INDEX; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC VARIABILITY; GOITER; HAPLOTYPE; HORMONE SUBSTITUTION; HUMAN; JAPANESE; LYMPHOCYTIC INFILTRATION; MALE; MASS SCREENING; MINOR ALLELE FREQUENCY; SCHOOL CHILD; THYROID FUNCTION; THYROIDECTOMY;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CLONING, MOLECULAR; CONGENITAL HYPOTHYROIDISM; DATABASES, GENETIC; EXOME; FEMALE; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GOITER; HAPLOTYPES; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 84880909923     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.20     Document Type: Article

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