Identification of Two Novel Mutations in the SLC4A1 Gene in Two Unrelated Chinese Families with Distal Renal Tubular Acidosis

Archives of Medical Research

Volumn 43, Issue 4, 2012, Pages 298-304

  Zhang, Zeng ^a   Liu, Kang Xiang ^a   He, Jin Wei ^a   Fu, Wen Zhen ^a   Yue, Hua ^a   Zhang, Hao ^a   Zhang, Chang Qing ^a   Zhang, Zhen Lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY AFFILIATED SIXTH PEOPLE S HOSPITAL   (China)

Author keywords

Anion exchanger 1; Distal renal tubular acidosis; Mutation; SLC4A1

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CHINESE; DISEASE SEVERITY; EXON; FATHER; FEMALE; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC PROCEDURES; GENETIC SCREENING; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPOKALEMIA; KIDNEY ACIDIFYING CAPACITY; KIDNEY DISTAL TUBULE; KIDNEY TUBULE ACIDOSIS; MALE; MOTHER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; SCHOOL CHILD; SLC4A1 GENE;

ACIDOSIS, RENAL TUBULAR; ADOLESCENT; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; GROWTH DISORDERS; HETEROZYGOTE; HUMANS; HYPOKALEMIA; MALE; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; RENAL OSTEODYSTROPHY;

EID: 84864096782     PISSN: 01884409     EISSN: 18735487     Source Type: Journal    
DOI: 10.1016/j.arcmed.2012.05.001     Document Type: Article

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