Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis

Kidney International

Volumn 76, Issue 7, 2009, Pages 774-783

  Chang, Yu Hsiang ^a,b,c   Shaw, Chen Fu ^a   Jian, Shu Huei ^d   Hsieh, Kai Hsien ^b   Chiou, Yee Hsuan ^b,c   Lu, Pei Jung ^d  

^a NATIONAL SUN YAT SEN UNIVERSITY   (Taiwan)

^b KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

^d NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

Author keywords

Anion exchanger 1; Distal renal tubular acidosis; Hereditary spherocytosis

Indexed keywords

COMPLEMENTARY DNA; ERYTHROID ANION EXCHANGER 1; GENOMIC DNA; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANION EXCHANGE; ARTICLE; CASE REPORT; CELL MEMBRANE; CELLULAR DISTRIBUTION; CYTOPLASM; ERYTHROCYTE MEMBRANE; FRAMESHIFT MUTATION; HEREDITARY SPHEROCYTOSIS; HUMAN; INFANT; KIDNEY CELL; KIDNEY DISTAL TUBULE; KIDNEY TUBULE ACIDOSIS; MALE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS;

ACIDOSIS, RENAL TUBULAR; ANIMALS; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; CELL LINE; DOGS; HUMANS; MUTANT PROTEINS; MUTATION, MISSENSE; PROTEIN MULTIMERIZATION; PROTEIN TRANSPORT; SPHEROCYTOSIS, HEREDITARY; TRANSFECTION;

EID: 70349207089     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2009.258     Document Type: Article

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