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A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gen...

A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gen...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734483

A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

About this item

Full title

A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2000-11, Vol.37 (11), p.e36-36

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

Since the g.133283G>A single nucleotide change creates a novel restriction enzyme recognition site for Alf III (A[black triangle down]CRYGT), the specific amplification of exon 3 followed byAlf III digestion 3 has been widely adopted to detect the R122H mutation both in hereditary 4-6 9 and sporadic 9 15 cases of pancreatitis.

Alternative Titles

Full title

A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734483

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734483

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg.37.11.e36

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