Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.

Human mutation

Volumn 24, Issue 3, 2004, Pages 272-

  Shah, Gul N ^a   Bonapace, Giuseppe ^a   Hu, Peiyi Y ^a   Strisciuglio, Pietro ^a   Sly, William S ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBONATE DEHYDRATASE II;

ADULT; ALBERS SCHOENBERG DISEASE; AMINO ACID SUBSTITUTION; AMNIOCENTESIS; ARTICLE; CALCINOSIS; CHILD; CHORION VILLUS SAMPLING; DNA SEQUENCE; ETHNIC GROUP; EXON; FEMALE; FETUS DISEASE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; KIDNEY TUBULE ACIDOSIS; MALE; MENTAL DEFICIENCY; METABOLIC ENCEPHALOPATHY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DEVELOPMENT; PRESCHOOL CHILD; RNA SPLICING; SYNDROME;

ACIDOSIS, RENAL TUBULAR; ADULT; AMINO ACID SUBSTITUTION; AMNIOCENTESIS; BRAIN DISEASES, METABOLIC, INBORN; CALCINOSIS; CARBONIC ANHYDRASE II; CHILD; CHILD, PRESCHOOL; CHORIONIC VILLI SAMPLING; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EXONS; FEMALE; FETAL DISEASES; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MENTAL RETARDATION; MUTATION, MISSENSE; OSTEOPETROSIS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 15044355321     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9266     Document Type: Article

References (0)