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Article

A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.

Human genetics - 1 May 1994

Giordano S J, Kaftory A, Steggles A W

Abstract excerpt

We have analyzed reticulocyte and leukocyte mRNAs isolated from a patient with congenital methemoglobinemia and pseudohermaphrodism. The cytochrome b5 cDNA sequences were amplified using specific oligonucleotide primers and the polymerase chain reaction (PCR). DNA sequencing indicated that there was a 16-bp deletion in the cDNA leading to a new, in-frame stop signal and resulting in a truncated protein of 45...

Topics

Base Sequence
Cytochromes b5
DNA Primers
DNA, Recombinant
Disorders of Sex Development
Gene Deletion
Humans
Leukocytes
Male
Methemoglobinemia
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymerase Chain Reaction

RNA, Messenger

Reticulocytes

Source

Identifiers

PMID: 8168836
DOI: 10.1007/BF00202825

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8168836-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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