PMID- 7959703
OWN - NLM
STAT- MEDLINE
DCOM- 19941215
LR  - 20211203
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 94
IP  - 5
DP  - 1994 Nov
TI  - A unique mutation underlying carbonic anhydrase II deficiency syndrome in 
      patients of Arab descent.
PG  - 581-2
AB  - We have investigated, in the genomic DNA of ten Tunisian patients, the presence 
      of a splice junction mutation at the 5' end of intron 2 in the carbonic anhydrase 
      II gene (CAII) previously described in six CAII-deficient patients presumed to be 
      of Arab origin. All our patients were homozygous for this mutation and were 
      mentally retarded, a characteristic feature of the phenotype of patients with an 
      Arabic background. This mutation is found exclusively in patients with an Arabic 
      background and thus may be confined to this ethnic group.
FAU - Fathallah, D M
AU  - Fathallah DM
AD  - Laboratory of Hematology and Immunopathology, Institut Pasteur Tunis, Tunisia.
FAU - Bejaoui, M
AU  - Bejaoui M
FAU - Sly, W S
AU  - Sly WS
FAU - Lakhoua, R
AU  - Lakhoua R
FAU - Dellagi, K
AU  - Dellagi K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - EC 4.2.1.1 (Carbonic Anhydrases)
SB  - IM
MH  - Acidosis, Renal Tubular/ethnology/genetics
MH  - Base Sequence
MH  - Carbonic Anhydrases/*deficiency/*genetics
MH  - DNA Mutational Analysis
MH  - Ethnicity/*genetics
MH  - Female
MH  - Homozygote
MH  - Humans
MH  - Intellectual Disability/ethnology/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Osteopetrosis/ethnology/genetics
MH  - Point Mutation/*genetics
MH  - Polymerase Chain Reaction
MH  - Restriction Mapping
MH  - Syndrome
MH  - Tunisia
EDAT- 1994/11/01 00:00
MHDA- 1994/11/01 00:01
CRDT- 1994/11/01 00:00
PHST- 1994/11/01 00:00 [pubmed]
PHST- 1994/11/01 00:01 [medline]
PHST- 1994/11/01 00:00 [entrez]
AID - 10.1007/BF00211035 [doi]
PST - ppublish
SO  - Hum Genet. 1994 Nov;94(5):581-2. doi: 10.1007/BF00211035.