Novel ALMS1 mutations in Chinese patients with alström syndrome

Molecular Vision

Volumn 19, Issue , 2013, Pages 1885-1891

  Liang, Xiaofang ^a   Li, Hui ^a   Li, Huajin ^a   Xu, Fei ^a   Dong, Fangtian ^a   Sui, Ruifang ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ACANTHOSIS NIGRICANS; ADOLESCENT; ALMS1 GENE; ALSTROM SYNDROME; ARTICLE; BLOOD SAMPLING; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA EXTRACTION; FEMALE; GENETIC ASSOCIATION; HUMAN; HYPERLIPIDEMIA; HYPOTHYROIDISM; INSULIN RESISTANCE; KIDNEY DYSFUNCTION; LIVER DYSFUNCTION; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; MUTATOR GENE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OBESITY; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PHOTOPHOBIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SEQUENCE ANALYSIS; VISUAL IMPAIRMENT;

ACANTHOSIS NIGRICANS; ALSTROM SYNDROME; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; FUNDUS OCULI; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEINS; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84884370099     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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